chr8:90990479:C>G Detail (hg19) (NBN)

Information

Genome

Assembly Position
hg19 chr8:90,990,479-90,990,479
hg38 chr8:89,978,251-89,978,251 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_002485.4:c.553G>C NP_002476.2:p.Glu185Gln
NM_001024688.2:c.307G>C NP_001019859.1:p.Glu103Gln
Ensemble ENST00000265433.8:c.553G>C ENST00000265433.8:p.Glu185Gln
Summary

MGeND

Clinical significance Benign
Variant entry 4,249
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.487
ToMMo:0.497
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.444

Prediction

ClinVar

Clinical Significance Benign
Review star
Show details
Links
Type Database ID Link
Gene MIM 602667 OMIM
HGNC 7652 HGNC
Ensembl ENSG00000104320 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv33898944 TogoVar
COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Benign 2018/01/13 breast, unspecified germline MGS000028
(TMGS000049) 		Yukihide Momozawa RIKEN 30287823
Benign 2020/04/20 cervical part of oesophagus not provided MGS000042
(TMGS000093) 		Hitoshi Nakagama National Cancer Center Japan
Benign 2020/04/20 upper third of oesophagus not provided MGS000042
(TMGS000093) 		Hitoshi Nakagama National Cancer Center Japan
Benign 2020/04/20 middle third of oesophagus not provided MGS000042
(TMGS000093) 		Hitoshi Nakagama National Cancer Center Japan
Benign 2020/04/20 lower third of oesophagus not provided MGS000042
(TMGS000093) 		Hitoshi Nakagama National Cancer Center Japan
Benign 2020/04/20 oesophagus, unspecified not provided MGS000042
(TMGS000093) 		Hitoshi Nakagama National Cancer Center Japan
Benign 2020/04/20 fundus of stomach not provided MGS000042
(TMGS000093) 		Hitoshi Nakagama National Cancer Center Japan
Benign 2020/04/20 body of stomach not provided MGS000042
(TMGS000093) 		Hitoshi Nakagama National Cancer Center Japan
Benign 2020/04/20 pyloric antrum not provided MGS000042
(TMGS000093) 		Hitoshi Nakagama National Cancer Center Japan
Benign 2020/04/20 stomach, unspecified not provided MGS000042
(TMGS000093) 		Hitoshi Nakagama National Cancer Center Japan
Benign 2020/04/20 duodenum not provided MGS000042
(TMGS000093) 		Hitoshi Nakagama National Cancer Center Japan
Benign 2020/04/20 jejunum not provided MGS000042
(TMGS000093) 		Hitoshi Nakagama National Cancer Center Japan
Benign 2020/04/20 ileum not provided MGS000042
(TMGS000093) 		Hitoshi Nakagama National Cancer Center Japan
Benign 2020/04/20 small intestine, unspecified not provided MGS000042
(TMGS000093) 		Hitoshi Nakagama National Cancer Center Japan
Benign 2020/04/20 caecum not provided MGS000042
(TMGS000093) 		Hitoshi Nakagama National Cancer Center Japan
Benign 2020/04/20 appendix not provided MGS000042
(TMGS000093) 		Hitoshi Nakagama National Cancer Center Japan
Benign 2020/04/20 ascending colon not provided MGS000042
(TMGS000093) 		Hitoshi Nakagama National Cancer Center Japan
Benign 2020/04/20 transverse colon not provided MGS000042
(TMGS000093) 		Hitoshi Nakagama National Cancer Center Japan
Benign 2020/04/20 descending colon not provided MGS000042
(TMGS000093) 		Hitoshi Nakagama National Cancer Center Japan
Benign 2020/04/20 sigmoid colon not provided MGS000042
(TMGS000093) 		Hitoshi Nakagama National Cancer Center Japan
Benign 2020/04/20 colon, unspecified not provided MGS000042
(TMGS000093) 		Hitoshi Nakagama National Cancer Center Japan
Benign 2020/04/20 malignant neoplasm of rectosigmoid junction not provided MGS000042
(TMGS000093) 		Hitoshi Nakagama National Cancer Center Japan
Benign 2020/04/20 malignant neoplasm of rectum not provided MGS000042
(TMGS000093) 		Hitoshi Nakagama National Cancer Center Japan
Benign 2020/04/20 anal canal not provided MGS000042
(TMGS000093) 		Hitoshi Nakagama National Cancer Center Japan
Benign 2020/04/20 liver cell carcinoma not provided MGS000042
(TMGS000093) 		Hitoshi Nakagama National Cancer Center Japan
Benign 2020/04/20 intrahepatic bile duct carcinoma not provided MGS000042
(TMGS000093) 		Hitoshi Nakagama National Cancer Center Japan
Benign 2020/04/20 malignant neoplasm of gallbladder not provided MGS000042
(TMGS000093) 		Hitoshi Nakagama National Cancer Center Japan
Benign 2020/04/20 extrahepatic bile duct not provided MGS000042
(TMGS000093) 		Hitoshi Nakagama National Cancer Center Japan
Benign 2020/04/20 ampulla of vater not provided MGS000042
(TMGS000093) 		Hitoshi Nakagama National Cancer Center Japan
Benign 2020/04/20 head of pancreas not provided MGS000042
(TMGS000093) 		Hitoshi Nakagama National Cancer Center Japan
Benign 2020/04/20 body of pancreas not provided MGS000042
(TMGS000093) 		Hitoshi Nakagama National Cancer Center Japan
Benign 2020/04/20 tail of pancreas not provided MGS000042
(TMGS000093) 		Hitoshi Nakagama National Cancer Center Japan
Benign 2020/04/20 ill-defined sites within the digestive system not provided MGS000042
(TMGS000093) 		Hitoshi Nakagama National Cancer Center Japan
Benign 2020/04/20 bronchus or lung, unspecified not provided MGS000042
(TMGS000093) 		Hitoshi Nakagama National Cancer Center Japan
Benign 2020/04/20 retroperitoneum not provided MGS000042
(TMGS000093) 		Hitoshi Nakagama National Cancer Center Japan
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2024-01-24 criteria provided, multiple submitters, no conflicts not specified germline Detail
Benign 2014-11-21 criteria provided, single submitter Hereditary cancer-predisposing syndrome germline Detail
Benign 2024-02-01 criteria provided, multiple submitters, no conflicts Microcephaly, normal intelligence and immunodeficiency germline Detail
Benign 2023-11-30 criteria provided, multiple submitters, no conflicts not provided germline Detail
Benign 2022-04-19 criteria provided, single submitter hereditary breast ovarian cancer syndrome germline Detail
Benign 2023-07-07 criteria provided, single submitter Acute lymphoid leukemia germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.010 Malignant neoplasm of stomach By the Cox analysis, the CC genotype of ERCC1 rs11615, AA genotype of ERCC2 rs17... BeFree 25542228 Detail
<0.001 stomach carcinoma In conclusion, our results suggest that ERCC1 rs11615, ERCC2 rs1799793, and NBN ... BeFree 25542228 Detail
0.012 Malignant neoplasm of stomach In conclusion, our results suggest that ERCC1 rs11615, ERCC2 rs1799793, and NBN ... BeFree 25542228 Detail
0.003 Malignant neoplasm of stomach In conclusion, our results suggest that ERCC1 rs11615, ERCC2 rs1799793, and NBN ... BeFree 25542228 Detail
0.009 stomach carcinoma By the Cox analysis, the CC genotype of ERCC1 rs11615, AA genotype of ERCC2 rs17... BeFree 25542228 Detail
0.002 stomach carcinoma In conclusion, our results suggest that ERCC1 rs11615, ERCC2 rs1799793, and NBN ... BeFree 25542228 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
<0.001 Carcinoma of bladder These associations were: two SNPs rs1799793 and rs13181 in the ERCC2 gene and lu... BeFree 21864546 Detail
0.194 Malignant neoplasm of breast For the SNPs in NBS1 exon 5 (Glu185Gln, G/C) and XPD exon 23 (Lys751Gln, A/C), n... BeFree 16002061 Detail
0.013 Malignant neoplasm of lung These associations were: two SNPs rs1799793 and rs13181 in the ERCC2 gene and lu... BeFree 21864546 Detail
0.002 Carcinoma of lung These associations were: two SNPs rs1799793 and rs13181 in the ERCC2 gene and lu... BeFree 21864546 Detail
0.084 Malignant neoplasm of urinary bladder These associations were: two SNPs rs1799793 and rs13181 in the ERCC2 gene and lu... BeFree 21864546 Detail
0.005 Carcinoma of bladder These associations were: two SNPs rs1799793 and rs13181 in the ERCC2 gene and lu... BeFree 21864546 Detail
0.014 Carcinoma of lung These associations were: two SNPs rs1799793 and rs13181 in the ERCC2 gene and lu... BeFree 21864546 Detail
0.214 Malignant neoplasm of lung These associations were: two SNPs rs1799793 and rs13181 in the ERCC2 gene and lu... BeFree 21864546 Detail
0.010 breast carcinoma For the SNPs in NBS1 exon 5 (Glu185Gln, G/C) and XPD exon 23 (Lys751Gln, A/C), n... BeFree 16002061 Detail
0.015 Malignant neoplasm of urinary bladder These associations were: two SNPs rs1799793 and rs13181 in the ERCC2 gene and lu... BeFree 21864546 Detail
<0.001 Non-small cell lung carcinoma We genotyped six potentially functional single nucleotide polymorphisms (SNPs) (... BeFree 21647442 Detail
0.015 Malignant neoplasm of urinary bladder Despite some limitations, this meta-analysis established some solid statistical ... BeFree 25073514 Detail
<0.001 Malignant neoplasm of urinary bladder A number of studies have investigated the association between the NBS1 Glu185Gln... BeFree 25073514 Detail
<0.001 Cancer of Urinary Tract NBS1 Glu185Gln polymorphism and susceptibility to urinary system cancer: a meta-... BeFree 25073514 Detail
0.010 breast carcinoma Genotyping was conducted for polymorphisms in four genes involved in repair of r... BeFree 16214912 Detail
<0.001 Cancer of Urinary Tract A number of studies have investigated the association between the NBS1 Glu185Gln... BeFree 25073514 Detail
0.002 Carcinoma of lung The functional polymorphism of NBS1 p.Glu185Gln is associated with an increased ... BeFree 25771871 Detail
0.003 meningioma The NBN rs1805794 minor allele variant was associated with decreased meningioma ... BeFree 20150366 Detail
0.002 Leukemia, Lymphocytic, Acute, L1 Among the investigated polymorphisms and mutations, NBN Glu185Gln significantly ... BeFree 25746326 Detail
<0.001 renal cell carcinoma Using the homozygous wild type as the reference group, we observed a significant... BeFree 18768505 Detail
0.002 Malignant neoplasm of prostate DNA repair system and prostate cancer progression: the role of NBS1 polymorphism... BeFree 22413803 Detail
0.496 Nijmegen breakage syndrome Genotyping was conducted for polymorphisms in four genes involved in repair of r... BeFree 16214912 Detail
<0.001 Precursor T-Cell Lymphoblastic Leukemia-Lymphoma Among the investigated polymorphisms and mutations, NBN Glu185Gln significantly ... BeFree 25746326 Detail
<0.001 renal cell carcinoma A number of studies have investigated the association between the NBS1 Glu185Gln... BeFree 25073514 Detail
0.005 breast carcinoma Genotyping was conducted for polymorphisms in four genes involved in repair of r... BeFree 16214912 Detail
0.194 Malignant neoplasm of breast Association between the NBS1 Glu185Gln polymorphism and breast cancer risk: a me... BeFree 23381647 Detail
<0.001 Leukemia, Myelocytic, Acute These findings indicated that rs1805794G/C polymorphism in NBS1 may play a prote... BeFree 23283743 Detail
0.008 breast carcinoma The NBS1 Glu185Gln (NBS1 E185Q, NBS1 8360G&gt;C, rs1805794) polymorphism has bee... BeFree 23381647 Detail
<0.001 Experimental Organism Basal Cell Carcinoma The data from this study show overall risk modulation of BCC by variant allele f... BeFree 16501254 Detail
<0.001 Precursor T-Cell Lymphoblastic Leukemia-Lymphoma Among the investigated polymorphisms and mutations, NBN Glu185Gln significantly ... BeFree 25746326 Detail
0.002 Carcinoma of lung Association between the NBS1 Glu185Gln polymorphism and lung cancer risk: a syst... BeFree 23275190 Detail
0.008 Malignant neoplasm of breast The NBS1 Glu185Gln (NBS1 E185Q, NBS1 8360G&gt;C, rs1805794) polymorphism has bee... BeFree 23381647 Detail
0.011 breast carcinoma Genotyping was conducted for polymorphisms in four genes involved in repair of r... BeFree 16214912 Detail
0.001 Malignant neoplasm of lung These findings suggest that the rs1805794G&gt;C of NBS1 may be a functional gene... BeFree 25771871 Detail
0.001 Carcinoma of lung These findings suggest that the rs1805794G&gt;C of NBS1 may be a functional gene... BeFree 25771871 Detail
0.001 Experimental Organism Basal Cell Carcinoma The data from this study show overall risk modulation of BCC by variant allele f... BeFree 16501254 Detail
0.194 Malignant neoplasm of breast Genotyping was conducted for polymorphisms in four genes involved in repair of r... BeFree 16214912 Detail
0.013 Malignant neoplasm of lung The functional polymorphism of NBS1 p.Glu185Gln is associated with an increased ... BeFree 25771871 Detail
0.002 prostate carcinoma DNA repair system and prostate cancer progression: the role of NBS1 polymorphism... BeFree 22413803 Detail
<0.001 Carcinoma of bladder Despite some limitations, this meta-analysis established some solid statistical ... BeFree 25073514 Detail
<0.001 Carcinoma of bladder A number of studies have investigated the association between the NBS1 Glu185Gln... BeFree 25073514 Detail
0.010 breast carcinoma Association between the NBS1 Glu185Gln polymorphism and breast cancer risk: a me... BeFree 23381647 Detail
0.013 Malignant neoplasm of lung Association between the NBS1 Glu185Gln polymorphism and lung cancer risk: a syst... BeFree 23275190 Detail
<0.001 Meningioma, benign, no ICD-O subtype The NBN rs1805794 minor allele variant was associated with decreased meningioma ... BeFree 20150366 Detail
0.085 Malignant neoplasm of breast Genotyping was conducted for polymorphisms in four genes involved in repair of r... BeFree 16214912 Detail
0.036 Malignant neoplasm of breast Genotyping was conducted for polymorphisms in four genes involved in repair of r... BeFree 16214912 Detail
<0.001 Leukemia, Myelocytic, Acute NBS1 rs1805794G&gt;C polymorphism is associated with decreased risk of acute mye... BeFree 23283743 Detail
0.002 Non-small cell lung carcinoma Our results indicate that SNPs in the NER genes ERCC1 (Asn118Asn, 15310G&gt;C, 8... BeFree 16195237 Detail
0.156 Non-small cell lung carcinoma Our results indicate that SNPs in the NER genes ERCC1 (Asn118Asn, 15310G&gt;C, 8... BeFree 16195237 Detail
0.005 Non-small cell lung carcinoma Our results indicate that SNPs in the NER genes ERCC1 (Asn118Asn, 15310G&gt;C, 8... BeFree 16195237 Detail
0.004 Non-small cell lung carcinoma Our results indicate that SNPs in the NER genes ERCC1 (Asn118Asn, 15310G&gt;C, 8... BeFree 16195237 Detail
<0.001 Non-small cell lung carcinoma Our results indicate that SNPs in the NER genes ERCC1 (Asn118Asn, 15310G&gt;C, 8... BeFree 16195237 Detail
<0.001 Non-small cell lung carcinoma Our results indicate that SNPs in the NER genes ERCC1 (Asn118Asn, 15310G&gt;C, 8... BeFree 16195237 Detail
0.002 Non-small cell lung carcinoma Our results indicate that SNPs in the NER genes ERCC1 (Asn118Asn, 15310G&gt;C, 8... BeFree 16195237 Detail
<0.001 Non-small cell lung carcinoma Our results indicate that SNPs in the NER genes ERCC1 (Asn118Asn, 15310G&gt;C, 8... BeFree 16195237 Detail
0.001 Non-small cell lung carcinoma Our results indicate that SNPs in the NER genes ERCC1 (Asn118Asn, 15310G&gt;C, 8... BeFree 16195237 Detail
0.012 Non-small cell lung carcinoma Our results indicate that SNPs in the NER genes ERCC1 (Asn118Asn, 15310G&gt;C, 8... BeFree 16195237 Detail
0.004 Non-small cell lung carcinoma Our results indicate that SNPs in the NER genes ERCC1 (Asn118Asn, 15310G&gt;C, 8... BeFree 16195237 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_002485.5(NBN):c.553G>C (p.Glu185Gln) AND not specified ClinVar Detail
NM_002485.5(NBN):c.553G>C (p.Glu185Gln) AND Hereditary cancer-predisposing syndrome ClinVar Detail
NM_002485.5(NBN):c.553G>C (p.Glu185Gln) AND Microcephaly, normal intelligence and immunodeficiency ClinVar Detail
NM_002485.5(NBN):c.553G>C (p.Glu185Gln) AND not provided ClinVar Detail
NM_002485.5(NBN):c.553G>C (p.Glu185Gln) AND Hereditary breast ovarian cancer syndrome ClinVar Detail
NM_002485.5(NBN):c.553G>C (p.Glu185Gln) AND Acute lymphoid leukemia ClinVar Detail
By the Cox analysis, the CC genotype of ERCC1 rs11615, AA genotype of ERCC2 rs1799793, and CC genoty... DisGeNET Detail
In conclusion, our results suggest that ERCC1 rs11615, ERCC2 rs1799793, and NBN rs1805794 polymorphi... DisGeNET Detail
In conclusion, our results suggest that ERCC1 rs11615, ERCC2 rs1799793, and NBN rs1805794 polymorphi... DisGeNET Detail
In conclusion, our results suggest that ERCC1 rs11615, ERCC2 rs1799793, and NBN rs1805794 polymorphi... DisGeNET Detail
By the Cox analysis, the CC genotype of ERCC1 rs11615, AA genotype of ERCC2 rs1799793, and CC genoty... DisGeNET Detail
In conclusion, our results suggest that ERCC1 rs11615, ERCC2 rs1799793, and NBN rs1805794 polymorphi... 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
These associations were: two SNPs rs1799793 and rs13181 in the ERCC2 gene and lung cancer (recessive... DisGeNET Detail
For the SNPs in NBS1 exon 5 (Glu185Gln, G/C) and XPD exon 23 (Lys751Gln, A/C), no remarkable differe... DisGeNET Detail
These associations were: two SNPs rs1799793 and rs13181 in the ERCC2 gene and lung cancer (recessive... DisGeNET Detail
These associations were: two SNPs rs1799793 and rs13181 in the ERCC2 gene and lung cancer (recessive... DisGeNET Detail
These associations were: two SNPs rs1799793 and rs13181 in the ERCC2 gene and lung cancer (recessive... DisGeNET Detail
These associations were: two SNPs rs1799793 and rs13181 in the ERCC2 gene and lung cancer (recessive... DisGeNET Detail
These associations were: two SNPs rs1799793 and rs13181 in the ERCC2 gene and lung cancer (recessive... DisGeNET Detail
These associations were: two SNPs rs1799793 and rs13181 in the ERCC2 gene and lung cancer (recessive... DisGeNET Detail
For the SNPs in NBS1 exon 5 (Glu185Gln, G/C) and XPD exon 23 (Lys751Gln, A/C), no remarkable differe... DisGeNET Detail
These associations were: two SNPs rs1799793 and rs13181 in the ERCC2 gene and lung cancer (recessive... DisGeNET Detail
We genotyped six potentially functional single nucleotide polymorphisms (SNPs) (i.e., RAD51 -135G&gt... DisGeNET Detail
Despite some limitations, this meta-analysis established some solid statistical evidence for the ass... DisGeNET Detail
A number of studies have investigated the association between the NBS1 Glu185Gln (rs1805794, 8360 G&... DisGeNET Detail
NBS1 Glu185Gln polymorphism and susceptibility to urinary system cancer: a meta-analysis. DisGeNET Detail
Genotyping was conducted for polymorphisms in four genes involved in repair of radiation-induced DNA... DisGeNET Detail
A number of studies have investigated the association between the NBS1 Glu185Gln (rs1805794, 8360 G&... DisGeNET Detail
The functional polymorphism of NBS1 p.Glu185Gln is associated with an increased risk of lung cancer ... DisGeNET Detail
The NBN rs1805794 minor allele variant was associated with decreased meningioma risk (P(trend) .006)... DisGeNET Detail
Among the investigated polymorphisms and mutations, NBN Glu185Gln significantly decreased susceptibi... DisGeNET Detail
Using the homozygous wild type as the reference group, we observed a significantly increased renal c... DisGeNET Detail
DNA repair system and prostate cancer progression: the role of NBS1 polymorphism (rs1805794). DisGeNET Detail
Genotyping was conducted for polymorphisms in four genes involved in repair of radiation-induced DNA... DisGeNET Detail
Among the investigated polymorphisms and mutations, NBN Glu185Gln significantly decreased susceptibi... DisGeNET Detail
A number of studies have investigated the association between the NBS1 Glu185Gln (rs1805794, 8360 G&... DisGeNET Detail
Genotyping was conducted for polymorphisms in four genes involved in repair of radiation-induced DNA... DisGeNET Detail
Association between the NBS1 Glu185Gln polymorphism and breast cancer risk: a meta-analysis. DisGeNET Detail
These findings indicated that rs1805794G/C polymorphism in NBS1 may play a protective role in mediat... DisGeNET Detail
The NBS1 Glu185Gln (NBS1 E185Q, NBS1 8360G&gt;C, rs1805794) polymorphism has been indicated to be in... DisGeNET Detail
The data from this study show overall risk modulation of BCC by variant allele for T241M polymorphis... DisGeNET Detail
Among the investigated polymorphisms and mutations, NBN Glu185Gln significantly decreased susceptibi... DisGeNET Detail
Association between the NBS1 Glu185Gln polymorphism and lung cancer risk: a systemic review and meta... DisGeNET Detail
The NBS1 Glu185Gln (NBS1 E185Q, NBS1 8360G&gt;C, rs1805794) polymorphism has been indicated to be in... DisGeNET Detail
Genotyping was conducted for polymorphisms in four genes involved in repair of radiation-induced DNA... DisGeNET Detail
These findings suggest that the rs1805794G&gt;C of NBS1 may be a functional genetic biomarker for lu... DisGeNET Detail
These findings suggest that the rs1805794G&gt;C of NBS1 may be a functional genetic biomarker for lu... DisGeNET Detail
The data from this study show overall risk modulation of BCC by variant allele for T241M polymorphis... DisGeNET Detail
Genotyping was conducted for polymorphisms in four genes involved in repair of radiation-induced DNA... DisGeNET Detail
The functional polymorphism of NBS1 p.Glu185Gln is associated with an increased risk of lung cancer ... DisGeNET Detail
DNA repair system and prostate cancer progression: the role of NBS1 polymorphism (rs1805794). DisGeNET Detail
Despite some limitations, this meta-analysis established some solid statistical evidence for the ass... DisGeNET Detail
A number of studies have investigated the association between the NBS1 Glu185Gln (rs1805794, 8360 G&... DisGeNET Detail
Association between the NBS1 Glu185Gln polymorphism and breast cancer risk: a meta-analysis. DisGeNET Detail
Association between the NBS1 Glu185Gln polymorphism and lung cancer risk: a systemic review and meta... DisGeNET Detail
The NBN rs1805794 minor allele variant was associated with decreased meningioma risk (P(trend) .006)... DisGeNET Detail
Genotyping was conducted for polymorphisms in four genes involved in repair of radiation-induced DNA... DisGeNET Detail
Genotyping was conducted for polymorphisms in four genes involved in repair of radiation-induced DNA... DisGeNET Detail
NBS1 rs1805794G&gt;C polymorphism is associated with decreased risk of acute myeloid leukemia in a C... DisGeNET Detail
Our results indicate that SNPs in the NER genes ERCC1 (Asn118Asn, 15310G&gt;C, 8902G&gt;T), XPA (-4G... DisGeNET Detail
Our results indicate that SNPs in the NER genes ERCC1 (Asn118Asn, 15310G&gt;C, 8902G&gt;T), XPA (-4G... DisGeNET Detail
Our results indicate that SNPs in the NER genes ERCC1 (Asn118Asn, 15310G&gt;C, 8902G&gt;T), XPA (-4G... DisGeNET Detail
Our results indicate that SNPs in the NER genes ERCC1 (Asn118Asn, 15310G&gt;C, 8902G&gt;T), XPA (-4G... DisGeNET Detail
Our results indicate that SNPs in the NER genes ERCC1 (Asn118Asn, 15310G&gt;C, 8902G&gt;T), XPA (-4G... DisGeNET Detail
Our results indicate that SNPs in the NER genes ERCC1 (Asn118Asn, 15310G&gt;C, 8902G&gt;T), XPA (-4G... DisGeNET Detail
Our results indicate that SNPs in the NER genes ERCC1 (Asn118Asn, 15310G&gt;C, 8902G&gt;T), XPA (-4G... DisGeNET Detail
Our results indicate that SNPs in the NER genes ERCC1 (Asn118Asn, 15310G&gt;C, 8902G&gt;T), XPA (-4G... DisGeNET Detail
Our results indicate that SNPs in the NER genes ERCC1 (Asn118Asn, 15310G&gt;C, 8902G&gt;T), XPA (-4G... DisGeNET Detail
Our results indicate that SNPs in the NER genes ERCC1 (Asn118Asn, 15310G&gt;C, 8902G&gt;T), XPA (-4G... DisGeNET Detail
Our results indicate that SNPs in the NER genes ERCC1 (Asn118Asn, 15310G&gt;C, 8902G&gt;T), XPA (-4G... 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
rs1805794 dbSNP
Genome
hg19
Position
chr8:90,990,479-90,990,479
Variant Type
snv
Reference Allele
C
Alternative Allele
G
Filtering Status (HGVD)
PASS
# of samples (HGVD)
1210
Mean of sample read depth (HGVD)
64.48
Standard deviation of sample read depth (HGVD)
27.58
Number of reference allele (HGVD)
1241
Number of alternative allele (HGVD)
1179
Allele Frequency (HGVD)
0.4871900826446281
Gene Symbol (HGVD)
NBN
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))
rs1805794
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.4967
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
8325
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
8648
East Asian Allele Counts (ExAC)
3838
East Asian Heterozygous Counts (ExAC)
2122
East Asian Homozygous Counts (ExAC)
858
East Asian Allele Frequency (ExAC)
0.44380203515263644
Chromosome Counts in All Race (ExAC)
121274
Allele Counts in All Race (ExAC)
41872
Heterozygous Counts in All Race (ExAC)
27038
Homozygous Counts in All Race (ExAC)
7417
Allele Frequency in All Race (ExAC)
0.34526774081831224
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