chr1:226555302:A>G Detail (hg19) (PARP1)

Information

Genome

Assembly Position
hg19 chr1:226,555,302-226,555,302
hg38 chr1:226,367,601-226,367,601 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001618.3:c.2285T>C NP_001609.2:p.Val762Ala
Ensemble ENST00000366794.10:c.2285T>C ENST00000366794.10:p.Val762Ala
ENST00000677203.1:c.2156T>C ENST00000677203.1:p.Val719Ala
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.423
ToMMo:0.402
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.438

Prediction

ClinVar

Clinical Significance Benign
Review star
Show details
Links
Type Database ID Link
Gene MIM 173870 OMIM
HGNC 270 HGNC
Ensembl ENSG00000143799 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv5017505 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2019-10-08 criteria provided, single submitter not provided germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.003 acoustic neuroma Risk of acoustic neuroma was increased for the ERCC2 rs1799793 (P(trend) .03) an... BeFree 20150366 Detail
0.085 Malignant neoplasm of breast Using data/samples collected from the first 752 Caucasians and 141 African-Ameri... BeFree 18701435 Detail
0.008 breast carcinoma Using data/samples collected from the first 752 Caucasians and 141 African-Ameri... BeFree 18701435 Detail
0.015 Malignant neoplasm of breast Using data/samples collected from the first 752 Caucasians and 141 African-Ameri... BeFree 18701435 Detail
0.011 breast carcinoma Using data/samples collected from the first 752 Caucasians and 141 African-Ameri... BeFree 18701435 Detail
0.002 breast carcinoma Using data/samples collected from the first 752 Caucasians and 141 African-Ameri... BeFree 18701435 Detail
0.009 Malignant neoplasm of breast Using data/samples collected from the first 752 Caucasians and 141 African-Ameri... BeFree 18701435 Detail
0.019 Malignant neoplasm of breast Using data/samples collected from the first 752 Caucasians and 141 African-Ameri... BeFree 18701435 Detail
0.001 breast carcinoma Using data/samples collected from the first 752 Caucasians and 141 African-Ameri... BeFree 18701435 Detail
0.004 breast carcinoma Using data/samples collected from the first 752 Caucasians and 141 African-Ameri... BeFree 18701435 Detail
0.018 breast carcinoma Using data/samples collected from the first 752 Caucasians and 141 African-Ameri... BeFree 18701435 Detail
0.023 Malignant neoplasm of breast Using data/samples collected from the first 752 Caucasians and 141 African-Ameri... BeFree 18701435 Detail
0.013 Malignant neoplasm of breast Using data/samples collected from the first 752 Caucasians and 141 African-Ameri... BeFree 18701435 Detail
0.002 breast carcinoma Using data/samples collected from the first 752 Caucasians and 141 African-Ameri... BeFree 18701435 Detail
0.098 Malignant neoplasm of breast Using data/samples collected from the first 752 Caucasians and 141 African-Ameri... BeFree 18701435 Detail
0.010 colorectal carcinoma In the present study, we investigated the role in colorectal cancer of single-nu... BeFree 18006925 Detail
0.030 colorectal cancer In the present study, we investigated the role in colorectal cancer of single-nu... BeFree 18006925 Detail
<0.001 melanoma We hypothesized that common nsSNPs of BER genes, specifically ADPRT rs1136410, X... BeFree 22687647 Detail
0.058 colorectal cancer In the present study, we investigated the role in colorectal cancer of single-nu... BeFree 18006925 Detail
0.013 colorectal carcinoma In the present study, we investigated the role in colorectal cancer of single-nu... BeFree 18006925 Detail
<0.001 meningitis In this work, we have investigated if the SNPs APE1 Asn148Glu, OGG1 Ser326Cys, a... BeFree 21651918 Detail
0.006 colorectal carcinoma In the present study, we investigated the role in colorectal cancer of single-nu... BeFree 18006925 Detail
0.030 Malignant neoplasm of urinary bladder Using multifactor dimensionality reduction approach, the four-factor model, incl... BeFree 17220334 Detail
<0.001 meningitis In this work, we have investigated if the SNPs APE1 Asn148Glu, OGG1 Ser326Cys, a... BeFree 21651918 Detail
<0.001 Meningitis, Bacterial In recent papers published by our group, we described the associations between t... BeFree 26316174 Detail
<0.001 Meningitis, Bacterial In recent papers published by our group, we described the associations between t... BeFree 26316174 Detail
<0.001 meningitis In this work, we have investigated if the SNPs APE1 Asn148Glu, OGG1 Ser326Cys, a... BeFree 21651918 Detail
<0.001 Meningitis, Bacterial In recent papers published by our group, we described the associations between t... BeFree 26316174 Detail
0.028 Malignant neoplasm of urinary bladder Using multifactor dimensionality reduction approach, the four-factor model, incl... BeFree 17220334 Detail
0.062 colorectal cancer In the present study, we investigated the role in colorectal cancer of single-nu... BeFree 18006925 Detail
0.004 Carcinoma of bladder Using multifactor dimensionality reduction approach, the four-factor model, incl... BeFree 17220334 Detail
0.002 Carcinoma of bladder Using multifactor dimensionality reduction approach, the four-factor model, incl... BeFree 17220334 Detail
0.004 Non-small cell lung carcinoma We genotyped SNPs of ADPRT (rs1136410 [V762A]), XRCC1 (rs1799782 [R194W], rs2548... BeFree 21420246 Detail
<0.001 Rash and Dermatitis Adverse Event Associated with Chemoradiation We genotyped SNPs of ADPRT (rs1136410 [V762A]), XRCC1 (rs1799782 [R194W], rs2548... BeFree 21420246 Detail
<0.001 Rash and Dermatitis Adverse Event Associated with Chemoradiation We genotyped SNPs of ADPRT (rs1136410 [V762A]), XRCC1 (rs1799782 [R194W], rs2548... BeFree 21420246 Detail
<0.001 Rash and Dermatitis Adverse Event Associated with Chemoradiation We genotyped SNPs of ADPRT (rs1136410 [V762A]), XRCC1 (rs1799782 [R194W], rs2548... BeFree 21420246 Detail
0.006 Diabetes Mellitus, Non-Insulin-Dependent We analyzed the association of C242T and Val762Ala polymorphisms of NADPH oxidas... BeFree 23040216 Detail
0.005 Lymphoma, Non-Hodgkin PARP-1 Val762Ala polymorphism is associated with reduced risk of non-Hodgkin lym... BeFree 20196871 Detail
<0.001 Small cell carcinoma of esophagus We retrospectively examined whether there was an association between the selecte... BeFree 25374063 Detail
<0.001 Malignant neoplasm of lung The aim of this study was to investigate the relationship of the PARP-1 Val762Al... BeFree 25179837 Detail
0.003 colon carcinoma We observed that the PARP Val762Ala SNP modified the association between marine ... BeFree 20559012 Detail
<0.001 Squamous cell carcinoma of esophagus In the final model, 4 SNPs, including 2 in the coding regions (ADPRT Val762Ala a... BeFree 15205355 Detail
<0.001 vitiligo We found that a significantly increased risk of vitiligo was associated with the... BeFree 23369758 Detail
<0.001 Squamous cell carcinoma of esophagus In the final model, 4 SNPs, including 2 in the coding regions (ADPRT Val762Ala a... BeFree 15205355 Detail
<0.001 Squamous cell carcinoma of esophagus In the final model, 4 SNPs, including 2 in the coding regions (ADPRT Val762Ala a... BeFree 15205355 Detail
<0.001 Carcinoma of lung The aim of this study was to investigate the relationship of the PARP-1 Val762Al... BeFree 25179837 Detail
0.001 cervix carcinoma Involvement of PARP-1 Val762Ala polymorphism in the onset of cervical cancer in ... BeFree 23633189 Detail
0.003 Carcinoma of lung Correlation between PARP-1 Val762Ala polymorphism and the risk of lung cancer in... BeFree 25179837 Detail
<0.001 colorectal carcinoma In conclusion, this meta-analysis suggests that the PARP-1 rs1136410: T &gt; C p... BeFree 24203816 Detail
0.002 Carcinogenesis PARP-1 has been implicated in human carcinogenesis, but the association between ... BeFree 22127734 Detail
0.014 colorectal carcinoma In conclusion, this meta-analysis suggests that the PARP-1 rs1136410: T &gt; C p... BeFree 24203816 Detail
<0.001 adenocarcinoma Our findings support the view that PARP-1 Val762Ala polymorphism may contribute ... BeFree 25179837 Detail
0.002 Diabetes Mellitus, Non-Insulin-Dependent We analyzed the association of C242T and Val762Ala polymorphisms of NADPH oxidas... BeFree 23040216 Detail
0.003 Malignant neoplasm of stomach PARP-1 Val762Ala polymorphism, CagA+ H. pylori infection and risk for gastric ca... BeFree 18716896 Detail
<0.001 Small cell carcinoma of esophagus We retrospectively examined whether there was an association between the selecte... BeFree 25374063 Detail
0.010 Malignant neoplasm of prostate This study is the first to provide evidence that the ADPRT V762A-genetic variant... BeFree 15342424 Detail
<0.001 Glioblastoma multiforme The C allele of the PARP1 rs1136410 variant was associated with a 20% reduction ... BeFree 19318434 Detail
0.027 Malignant neoplasm of breast Association between PARP-1 V762A polymorphism and breast cancer susceptibility i... BeFree 24392019 Detail
<0.001 vitiligo We found that a significantly increased risk of vitiligo was associated with the... BeFree 23369758 Detail
0.003 stomach carcinoma ADPRT Val762Ala and XRCC1 Arg194Trp polymorphisms and risk of gastric cancer in ... BeFree 22901183 Detail
0.005 Secondary malignant neoplasm of lymph node Epistasis between PARP1 rs1136410 and MMP2 rs243865 increased the risk of LNM of... BeFree 21612407 Detail
<0.001 oligospermia Association of common SNP rs1136410 in PARP1 gene with the susceptibility to mal... BeFree 25106941 Detail
<0.001 Small cell carcinoma of esophagus We retrospectively examined whether there was an association between the selecte... BeFree 25374063 Detail
<0.001 VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding) We found that a significantly increased risk of vitiligo was associated with the... BeFree 23369758 Detail
<0.001 Small cell carcinoma of esophagus We retrospectively examined whether there was an association between the selecte... BeFree 25374063 Detail
0.004 coronary artery disease We analyzed the association of C242T and Val762Ala polymorphisms of NADPH oxidas... BeFree 23040216 Detail
<0.001 Thyroid carcinoma Our results do not reveal a significant involvement of XRCC1 Arg194Trp and Arg39... BeFree 22922830 Detail
<0.001 Malignant tumor of cervix Involvement of PARP-1 Val762Ala polymorphism in the onset of cervical cancer in ... BeFree 23633189 Detail
0.007 prostate carcinoma This study is the first to provide evidence that the ADPRT V762A-genetic variant... BeFree 15342424 Detail
0.007 prostate carcinoma Genetic analyses of the PARP-1 gene have demonstrated alterations in neoplasms, ... BeFree 15868402 Detail
<0.001 male infertility Association of common SNP rs1136410 in PARP1 gene with the susceptibility to mal... BeFree 25106941 Detail
0.008 stomach carcinoma ADPRT Val762Ala and XRCC1 Arg194Trp polymorphisms and risk of gastric cancer in ... BeFree 22901183 Detail
0.011 Glioma The present meta-analysis provides evidence that the PARP-1 Val762Ala may be inv... BeFree 24853559 Detail
0.002 Carcinogenesis PARP-1 rs1136410: C&gt;T is among the most studied polymorphisms and likely invo... BeFree 24853559 Detail
0.009 stomach carcinoma Epistasis between PARP1 rs1136410 and MMP2 rs243865 increased the risk of LNM of... BeFree 21612407 Detail
0.003 myocardial infarction We analyzed the association of C242T and Val762Ala polymorphisms of NADPH oxidas... BeFree 23040216 Detail
0.001 myocardial infarction We analyzed the association of C242T and Val762Ala polymorphisms of NADPH oxidas... BeFree 23040216 Detail
0.003 acoustic neuroma Risk of acoustic neuroma was increased for the ERCC2 rs1799793 (P(trend) .03) an... BeFree 20150366 Detail
0.011 Glioma Interestingly, the risk for glioma was dramatically increased in ionizing radiat... BeFree 19124499 Detail
<0.001 Small cell carcinoma of esophagus We retrospectively examined whether there was an association between the selecte... BeFree 25374063 Detail
0.176 Glioma Interestingly, the risk for glioma was dramatically increased in ionizing radiat... BeFree 19124499 Detail
0.015 Malignant neoplasm of lung The present meta-analysis provides evidence that the PARP-1 Val762Ala may be inv... BeFree 24853559 Detail
0.023 breast carcinoma Association between PARP-1 V762A polymorphism and breast cancer susceptibility i... BeFree 24392019 Detail
<0.001 Malignant neoplasm of thyroid Our results do not reveal a significant involvement of XRCC1 Arg194Trp and Arg39... BeFree 22922830 Detail
0.086 myocardial infarction We analyzed the association of C242T and Val762Ala polymorphisms of NADPH oxidas... BeFree 23040216 Detail
0.003 acoustic neuroma Risk of acoustic neuroma was increased for the ERCC2 rs1799793 (P(trend) .03) an... BeFree 20150366 Detail
0.011 Glioma We found that SNPs rs3212986 (odds ratio [OR] = 1.35 (1.08-1.68), P = .008), rs1... BeFree 24500421 Detail
0.006 Diabetes Mellitus, Non-Insulin-Dependent eNOS 894G &gt; T and PARP-1 Val762Ala polymorphisms appeared to associate signif... BeFree 25041504 Detail
0.003 stomach carcinoma PARP-1 Val762Ala polymorphism, CagA+ H. pylori infection and risk for gastric ca... BeFree 18716896 Detail
<0.001 Hypertensive disease Multiple logistic regression analysis revealed a significant and independent ass... BeFree 25041504 Detail
<0.001 Squamous cell carcinoma of esophagus In the final model, 4 SNPs, including 2 in the coding regions (ADPRT Val762Ala a... BeFree 15205355 Detail
0.004 glioblastoma The C allele of the PARP1 rs1136410 variant was associated with a 20% reduction ... BeFree 19318434 Detail
0.003 Malignant neoplasm of stomach ADPRT Val762Ala and XRCC1 Arg194Trp polymorphisms and risk of gastric cancer in ... BeFree 22901183 Detail
0.135 Diabetes Mellitus, Non-Insulin-Dependent We analyzed the association of C242T and Val762Ala polymorphisms of NADPH oxidas... BeFree 23040216 Detail
0.012 Glioma We found that SNPs rs3212986 (odds ratio [OR] = 1.35 (1.08-1.68), P = .008), rs1... BeFree 24500421 Detail
0.033 colorectal cancer In conclusion, this meta-analysis suggests that the PARP-1 rs1136410: T &gt; C p... BeFree 24203816 Detail
<0.001 Diabetic Polyneuropathies Leu54Phe and Val762Ala polymorphisms in the poly(ADP-ribose)polymerase-1 gene ar... BeFree 18054108 Detail
0.003 Malignant tumor of colon We observed that the PARP Val762Ala SNP modified the association between marine ... BeFree 20559012 Detail
0.001 cervix carcinoma PARP-1 Val762Ala polymorphism is associated with risk of cervical carcinoma. BeFree 22624032 Detail
<0.001 colorectal cancer In conclusion, this meta-analysis suggests that the PARP-1 rs1136410: T &gt; C p... BeFree 24203816 Detail
0.123 Squamous cell carcinoma of esophagus In the final model, 4 SNPs, including 2 in the coding regions (ADPRT Val762Ala a... BeFree 15205355 Detail
0.031 coronary artery disease We analyzed the association of C242T and Val762Ala polymorphisms of NADPH oxidas... BeFree 23040216 Detail
0.018 Malignant neoplasm of stomach ADPRT Val762Ala and XRCC1 Arg194Trp polymorphisms and risk of gastric cancer in ... BeFree 22901183 Detail
0.124 asthma The Ala allele at Val762Ala polymorphism in poly(ADP-ribose) polymerase-1 (PARP-... BeFree 19484672 Detail
0.013 Malignant neoplasm of stomach Epistasis between PARP1 rs1136410 and MMP2 rs243865 increased the risk of LNM of... BeFree 21612407 Detail
0.010 Malignant neoplasm of prostate Genetic analyses of the PARP-1 gene have demonstrated alterations in neoplasms, ... BeFree 15868402 Detail
<0.001 Helicobacter pylori infection PARP-1 762Ala/Ala could be a risk factor for gastric cancer in Han Chinese popul... BeFree 18716896 Detail
0.015 Malignant neoplasm of lung Correlation between PARP-1 Val762Ala polymorphism and the risk of lung cancer in... BeFree 25179837 Detail
<0.001 VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding) We found that a significantly increased risk of vitiligo was associated with the... BeFree 23369758 Detail
<0.001 Diabetic Nephropathy eNOS 894G &gt; T and PARP-1 Val762Ala polymorphisms appeared to associate signif... BeFree 25041504 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_001618.4(PARP1):c.2285T>C (p.Val762Ala) AND not provided ClinVar Detail
Risk of acoustic neuroma was increased for the ERCC2 rs1799793 (P(trend) .03) and ERCC5 rs17655 (P(t... DisGeNET Detail
Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing c... DisGeNET Detail
Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing c... DisGeNET Detail
Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing c... DisGeNET Detail
Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing c... DisGeNET Detail
Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing c... DisGeNET Detail
Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing c... DisGeNET Detail
Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing c... DisGeNET Detail
Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing c... DisGeNET Detail
Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing c... DisGeNET Detail
Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing c... DisGeNET Detail
Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing c... DisGeNET Detail
Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing c... DisGeNET Detail
Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing c... DisGeNET Detail
Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing c... DisGeNET Detail
In the present study, we investigated the role in colorectal cancer of single-nucleotide polymorphis... DisGeNET Detail
In the present study, we investigated the role in colorectal cancer of single-nucleotide polymorphis... DisGeNET Detail
We hypothesized that common nsSNPs of BER genes, specifically ADPRT rs1136410, XRCC1 rs25487, rs2548... DisGeNET Detail
In the present study, we investigated the role in colorectal cancer of single-nucleotide polymorphis... DisGeNET Detail
In the present study, we investigated the role in colorectal cancer of single-nucleotide polymorphis... DisGeNET Detail
In this work, we have investigated if the SNPs APE1 Asn148Glu, OGG1 Ser326Cys, and PARP-1 Val762Ala ... DisGeNET Detail
In the present study, we investigated the role in colorectal cancer of single-nucleotide polymorphis... DisGeNET Detail
Using multifactor dimensionality reduction approach, the four-factor model, including smoking status... DisGeNET Detail
In this work, we have investigated if the SNPs APE1 Asn148Glu, OGG1 Ser326Cys, and PARP-1 Val762Ala ... DisGeNET Detail
In recent papers published by our group, we described the associations between the single nucleotide... DisGeNET Detail
In recent papers published by our group, we described the associations between the single nucleotide... DisGeNET Detail
In this work, we have investigated if the SNPs APE1 Asn148Glu, OGG1 Ser326Cys, and PARP-1 Val762Ala ... DisGeNET Detail
In recent papers published by our group, we described the associations between the single nucleotide... DisGeNET Detail
Using multifactor dimensionality reduction approach, the four-factor model, including smoking status... DisGeNET Detail
In the present study, we investigated the role in colorectal cancer of single-nucleotide polymorphis... DisGeNET Detail
Using multifactor dimensionality reduction approach, the four-factor model, including smoking status... DisGeNET Detail
Using multifactor dimensionality reduction approach, the four-factor model, including smoking status... DisGeNET Detail
We genotyped SNPs of ADPRT (rs1136410 [V762A]), XRCC1 (rs1799782 [R194W], rs25489 [R280H], and rs254... DisGeNET Detail
We genotyped SNPs of ADPRT (rs1136410 [V762A]), XRCC1 (rs1799782 [R194W], rs25489 [R280H], and rs254... DisGeNET Detail
We genotyped SNPs of ADPRT (rs1136410 [V762A]), XRCC1 (rs1799782 [R194W], rs25489 [R280H], and rs254... DisGeNET Detail
We genotyped SNPs of ADPRT (rs1136410 [V762A]), XRCC1 (rs1799782 [R194W], rs25489 [R280H], and rs254... DisGeNET Detail
We analyzed the association of C242T and Val762Ala polymorphisms of NADPH oxidase p22phox and poly (... DisGeNET Detail
PARP-1 Val762Ala polymorphism is associated with reduced risk of non-Hodgkin lymphoma in Korean male... DisGeNET Detail
We retrospectively examined whether there was an association between the selected six single nucleot... DisGeNET Detail
The aim of this study was to investigate the relationship of the PARP-1 Val762Ala (rs1136410 T&gt;C)... DisGeNET Detail
We observed that the PARP Val762Ala SNP modified the association between marine n-3 PUFA and rectal ... DisGeNET Detail
In the final model, 4 SNPs, including 2 in the coding regions (ADPRT Val762Ala and MBD4 Glu346Lys) a... DisGeNET Detail
We found that a significantly increased risk of vitiligo was associated with the APE1 Asp/Glu (adjus... DisGeNET Detail
In the final model, 4 SNPs, including 2 in the coding regions (ADPRT Val762Ala and MBD4 Glu346Lys) a... DisGeNET Detail
In the final model, 4 SNPs, including 2 in the coding regions (ADPRT Val762Ala and MBD4 Glu346Lys) a... DisGeNET Detail
The aim of this study was to investigate the relationship of the PARP-1 Val762Ala (rs1136410 T&gt;C)... DisGeNET Detail
Involvement of PARP-1 Val762Ala polymorphism in the onset of cervical cancer in caucasian women. DisGeNET Detail
Correlation between PARP-1 Val762Ala polymorphism and the risk of lung cancer in a Chinese populatio... DisGeNET Detail
In conclusion, this meta-analysis suggests that the PARP-1 rs1136410: T &gt; C polymorphism is a sus... DisGeNET Detail
PARP-1 has been implicated in human carcinogenesis, but the association between the most-studied PAR... DisGeNET Detail
In conclusion, this meta-analysis suggests that the PARP-1 rs1136410: T &gt; C polymorphism is a sus... DisGeNET Detail
Our findings support the view that PARP-1 Val762Ala polymorphism may contribute to an increased risk... DisGeNET Detail
We analyzed the association of C242T and Val762Ala polymorphisms of NADPH oxidase p22phox and poly (... DisGeNET Detail
PARP-1 Val762Ala polymorphism, CagA+ H. pylori infection and risk for gastric cancer in Han Chinese ... DisGeNET Detail
We retrospectively examined whether there was an association between the selected six single nucleot... DisGeNET Detail
This study is the first to provide evidence that the ADPRT V762A-genetic variant contributes to CaP ... DisGeNET Detail
The C allele of the PARP1 rs1136410 variant was associated with a 20% reduction in risk for glioblas... DisGeNET Detail
Association between PARP-1 V762A polymorphism and breast cancer susceptibility in Saudi population. DisGeNET Detail
We found that a significantly increased risk of vitiligo was associated with the APE1 Asp/Glu (adjus... DisGeNET Detail
ADPRT Val762Ala and XRCC1 Arg194Trp polymorphisms and risk of gastric cancer in Sichuan of China. DisGeNET Detail
Epistasis between PARP1 rs1136410 and MMP2 rs243865 increased the risk of LNM of GC. DisGeNET Detail
Association of common SNP rs1136410 in PARP1 gene with the susceptibility to male infertility with o... DisGeNET Detail
We retrospectively examined whether there was an association between the selected six single nucleot... DisGeNET Detail
We found that a significantly increased risk of vitiligo was associated with the APE1 Asp/Glu (adjus... DisGeNET Detail
We retrospectively examined whether there was an association between the selected six single nucleot... DisGeNET Detail
We analyzed the association of C242T and Val762Ala polymorphisms of NADPH oxidase p22phox and poly (... DisGeNET Detail
Our results do not reveal a significant involvement of XRCC1 Arg194Trp and Arg399Gln, OGG1 Ser326Cys... DisGeNET Detail
Involvement of PARP-1 Val762Ala polymorphism in the onset of cervical cancer in caucasian women. DisGeNET Detail
This study is the first to provide evidence that the ADPRT V762A-genetic variant contributes to CaP ... DisGeNET Detail
Genetic analyses of the PARP-1 gene have demonstrated alterations in neoplasms, and a mutation affec... DisGeNET Detail
Association of common SNP rs1136410 in PARP1 gene with the susceptibility to male infertility with o... DisGeNET Detail
ADPRT Val762Ala and XRCC1 Arg194Trp polymorphisms and risk of gastric cancer in Sichuan of China. DisGeNET Detail
The present meta-analysis provides evidence that the PARP-1 Val762Ala may be involved in cancer deve... DisGeNET Detail
PARP-1 rs1136410: C&gt;T is among the most studied polymorphisms and likely involved in human carcin... DisGeNET Detail
Epistasis between PARP1 rs1136410 and MMP2 rs243865 increased the risk of LNM of GC. DisGeNET Detail
We analyzed the association of C242T and Val762Ala polymorphisms of NADPH oxidase p22phox and poly (... DisGeNET Detail
We analyzed the association of C242T and Val762Ala polymorphisms of NADPH oxidase p22phox and poly (... DisGeNET Detail
Risk of acoustic neuroma was increased for the ERCC2 rs1799793 (P(trend) .03) and ERCC5 rs17655 (P(t... DisGeNET Detail
Interestingly, the risk for glioma was dramatically increased in ionizing radiation exposure individ... DisGeNET Detail
We retrospectively examined whether there was an association between the selected six single nucleot... DisGeNET Detail
Interestingly, the risk for glioma was dramatically increased in ionizing radiation exposure individ... DisGeNET Detail
The present meta-analysis provides evidence that the PARP-1 Val762Ala may be involved in cancer deve... DisGeNET Detail
Association between PARP-1 V762A polymorphism and breast cancer susceptibility in Saudi population. DisGeNET Detail
Our results do not reveal a significant involvement of XRCC1 Arg194Trp and Arg399Gln, OGG1 Ser326Cys... DisGeNET Detail
We analyzed the association of C242T and Val762Ala polymorphisms of NADPH oxidase p22phox and poly (... DisGeNET Detail
Risk of acoustic neuroma was increased for the ERCC2 rs1799793 (P(trend) .03) and ERCC5 rs17655 (P(t... DisGeNET Detail
We found that SNPs rs3212986 (odds ratio [OR] = 1.35 (1.08-1.68), P = .008), rs13181 (OR = 1.18 (1.0... DisGeNET Detail
eNOS 894G &gt; T and PARP-1 Val762Ala polymorphisms appeared to associate significantly with DN, wit... DisGeNET Detail
PARP-1 Val762Ala polymorphism, CagA+ H. pylori infection and risk for gastric cancer in Han Chinese ... DisGeNET Detail
Multiple logistic regression analysis revealed a significant and independent association of eNOS 894... DisGeNET Detail
In the final model, 4 SNPs, including 2 in the coding regions (ADPRT Val762Ala and MBD4 Glu346Lys) a... DisGeNET Detail
The C allele of the PARP1 rs1136410 variant was associated with a 20% reduction in risk for glioblas... DisGeNET Detail
ADPRT Val762Ala and XRCC1 Arg194Trp polymorphisms and risk of gastric cancer in Sichuan of China. DisGeNET Detail
We analyzed the association of C242T and Val762Ala polymorphisms of NADPH oxidase p22phox and poly (... DisGeNET Detail
We found that SNPs rs3212986 (odds ratio [OR] = 1.35 (1.08-1.68), P = .008), rs13181 (OR = 1.18 (1.0... DisGeNET Detail
In conclusion, this meta-analysis suggests that the PARP-1 rs1136410: T &gt; C polymorphism is a sus... DisGeNET Detail
Leu54Phe and Val762Ala polymorphisms in the poly(ADP-ribose)polymerase-1 gene are associated with di... DisGeNET Detail
We observed that the PARP Val762Ala SNP modified the association between marine n-3 PUFA and rectal ... DisGeNET Detail
PARP-1 Val762Ala polymorphism is associated with risk of cervical carcinoma. DisGeNET Detail
In conclusion, this meta-analysis suggests that the PARP-1 rs1136410: T &gt; C polymorphism is a sus... DisGeNET Detail
In the final model, 4 SNPs, including 2 in the coding regions (ADPRT Val762Ala and MBD4 Glu346Lys) a... DisGeNET Detail
We analyzed the association of C242T and Val762Ala polymorphisms of NADPH oxidase p22phox and poly (... DisGeNET Detail
ADPRT Val762Ala and XRCC1 Arg194Trp polymorphisms and risk of gastric cancer in Sichuan of China. DisGeNET Detail
The Ala allele at Val762Ala polymorphism in poly(ADP-ribose) polymerase-1 (PARP-1) gene is associate... DisGeNET Detail
Epistasis between PARP1 rs1136410 and MMP2 rs243865 increased the risk of LNM of GC. DisGeNET Detail
Genetic analyses of the PARP-1 gene have demonstrated alterations in neoplasms, and a mutation affec... DisGeNET Detail
PARP-1 762Ala/Ala could be a risk factor for gastric cancer in Han Chinese population; PARP-1 762Val... DisGeNET Detail
Correlation between PARP-1 Val762Ala polymorphism and the risk of lung cancer in a Chinese populatio... DisGeNET Detail
We found that a significantly increased risk of vitiligo was associated with the APE1 Asp/Glu (adjus... DisGeNET Detail
eNOS 894G &gt; T and PARP-1 Val762Ala polymorphisms appeared to associate significantly with DN, wit... DisGeNET Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs1136410 dbSNP
Genome
hg19
Position
chr1:226,555,302-226,555,302
Variant Type
snv
Reference Allele
A
Alternative Allele
G
Filtering Status (HGVD)
PASS
# of samples (HGVD)
1208
Mean of sample read depth (HGVD)
70.82
Standard deviation of sample read depth (HGVD)
33.42
Number of reference allele (HGVD)
1393
Number of alternative allele (HGVD)
1023
Allele Frequency (HGVD)
0.4234271523178808
Gene Symbol (HGVD)
PARP1
ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
PASS
Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
rs1136410
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.4022
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
6741
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
8618
East Asian Allele Counts (ExAC)
3771
East Asian Heterozygous Counts (ExAC)
2105
East Asian Homozygous Counts (ExAC)
833
East Asian Allele Frequency (ExAC)
0.43757252262705965
Chromosome Counts in All Race (ExAC)
121326
Allele Counts in All Race (ExAC)
24481
Heterozygous Counts in All Race (ExAC)
17683
Homozygous Counts in All Race (ExAC)
3399
Allele Frequency in All Race (ExAC)
0.20177867893114418
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