chr2:217041109:A>G Detail (hg38)

Information

Genome

Assembly Position
hg19 chr2:217,905,832-217,905,832 View the variant detail on this assembly version.
hg38 chr2:217,041,109-217,041,109

HGVS

[No Data.]
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.894
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:[No Data.]

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.230 Malignant neoplasm of breast Two single-nucleotide polymorphisms, rs13387042 (2q35) and rs1219648 (FGFR2 gene... BeFree 19789366 Detail
0.006 breast carcinoma We focus on TNRC9 rs3803662, FGFR2 rs1219648 and rs2981582, MAP3K1 rs889312, and... BeFree 21475998 Detail
0.166 Malignant neoplasm of breast We focus on TNRC9 rs3803662, FGFR2 rs1219648 and rs2981582, MAP3K1 rs889312, and... BeFree 21475998 Detail
0.031 breast carcinoma Two single-nucleotide polymorphisms, rs13387042 (2q35) and rs1219648 (FGFR2 gene... BeFree 19789366 Detail
<0.001 breast carcinoma We genotyped 17 germline SNPs (FGFR2-rs2981582, FGFR2-rs3750817, TNRC9-rs3803662... BeFree 21791674 Detail
0.132 Malignant neoplasm of breast We genotyped 17 germline SNPs (FGFR2-rs2981582, FGFR2-rs3750817, TNRC9-rs3803662... BeFree 21791674 Detail
0.001 breast carcinoma We genotyped 17 germline SNPs (FGFR2-rs2981582, FGFR2-rs3750817, TNRC9-rs3803662... BeFree 21791674 Detail
0.001 Malignant neoplasm of breast We genotyped 17 germline SNPs (FGFR2-rs2981582, FGFR2-rs3750817, TNRC9-rs3803662... BeFree 21791674 Detail
0.003 breast carcinoma We genotyped 17 germline SNPs (FGFR2-rs2981582, FGFR2-rs3750817, TNRC9-rs3803662... BeFree 21791674 Detail
0.123 Malignant neoplasm of breast We genotyped 17 germline SNPs (FGFR2-rs2981582, FGFR2-rs3750817, TNRC9-rs3803662... BeFree 21791674 Detail
0.360 Malignant neoplasm of breast In the present study, we evaluated the association between rs3803662 (TOX3, also... BeFree 24532140 Detail
0.080 breast carcinoma In the present study, we evaluated the association between rs3803662 (TOX3, also... BeFree 24532140 Detail
0.080 breast carcinoma Risk of estrogen receptor-positive and -negative breast cancer and single-nucleo... BeFree 19567422 Detail
<0.001 Malignant neoplasm of female breast Comparing the ORs for male breast cancer with the published ORs for female breas... BeFree 21949660 Detail
<0.001 Carcinoma of male breast Comparing the ORs for male breast cancer with the published ORs for female breas... BeFree 21949660 Detail
<0.001 female breast carcinoma Comparing the ORs for male breast cancer with the published ORs for female breas... BeFree 21949660 Detail
<0.001 Malignant neoplasm of male breast Comparing the ORs for male breast cancer with the published ORs for female breas... BeFree 21949660 Detail
0.240 Malignant neoplasm of breast Risk of estrogen receptor-positive and -negative breast cancer and single-nucleo... BeFree 19567422 Detail
<0.001 Malignant neoplasm of male breast Comparing the ORs for male breast cancer with the published ORs for female breas... BeFree 21949660 Detail
<0.001 female breast carcinoma Comparing the ORs for male breast cancer with the published ORs for female breas... BeFree 21949660 Detail
<0.001 Carcinoma of male breast Comparing the ORs for male breast cancer with the published ORs for female breas... BeFree 21949660 Detail
<0.001 Malignant neoplasm of female breast Comparing the ORs for male breast cancer with the published ORs for female breas... BeFree 21949660 Detail
0.121 Malignant neoplasm of breast Seven SNPs were statistically significant (P ≤ 0.05) with the risk of overall br... BeFree 23593120 Detail
0.002 breast carcinoma Seven SNPs were statistically significant (P ≤ 0.05) with the risk of overall br... BeFree 23593120 Detail
0.003 breast carcinoma Seven SNPs were statistically significant (P ≤ 0.05) with the risk of overall br... BeFree 23593120 Detail
<0.001 breast carcinoma Seven SNPs were statistically significant (P ≤ 0.05) with the risk of overall br... BeFree 23593120 Detail
0.031 breast carcinoma Seven SNPs were statistically significant (P ≤ 0.05) with the risk of overall br... BeFree 23593120 Detail
<0.001 Malignant neoplasm of breast Seven SNPs were statistically significant (P ≤ 0.05) with the risk of overall br... BeFree 23593120 Detail
0.230 Malignant neoplasm of breast Seven SNPs were statistically significant (P ≤ 0.05) with the risk of overall br... BeFree 23593120 Detail
0.138 Malignant neoplasm of breast Seven SNPs were statistically significant (P ≤ 0.05) with the risk of overall br... BeFree 23593120 Detail
0.122 Malignant neoplasm of breast Seven SNPs were statistically significant (P ≤ 0.05) with the risk of overall br... BeFree 23593120 Detail
<0.001 breast carcinoma Seven SNPs were statistically significant (P ≤ 0.05) with the risk of overall br... BeFree 23593120 Detail
0.009 breast carcinoma Seven SNPs were statistically significant (P ≤ 0.05) with the risk of overall br... BeFree 23593120 Detail
0.132 Malignant neoplasm of breast Seven SNPs were statistically significant (P ≤ 0.05) with the risk of overall br... BeFree 23593120 Detail
0.006 breast carcinoma Confirmed BC risk SNPs rs17468277 (CASP8), rs1982073 (TGFB1), rs2981582 (FGFR2),... BeFree 22532573 Detail
0.131 Malignant neoplasm of breast We confirmed associations between rs13387042 (2q35), rs4973768 (SLC4A7), rs10941... BeFree 23893088 Detail
0.031 breast carcinoma We confirmed associations between rs13387042 (2q35), rs4973768 (SLC4A7), rs10941... BeFree 23893088 Detail
0.009 breast carcinoma Confirmed BC risk SNPs rs17468277 (CASP8), rs1982073 (TGFB1), rs2981582 (FGFR2),... BeFree 22532573 Detail
0.031 breast carcinoma Confirmed BC risk SNPs rs17468277 (CASP8), rs1982073 (TGFB1), rs2981582 (FGFR2),... BeFree 22532573 Detail
0.001 Malignant neoplasm of breast Confirmed BC risk SNPs rs17468277 (CASP8), rs1982073 (TGFB1), rs2981582 (FGFR2),... BeFree 22532573 Detail
<0.001 Carcinoma of male breast Five SNPs showed a statistically significant association with male breast cancer... BeFree 21949660 Detail
0.162 Malignant neoplasm of breast Confirmed BC risk SNPs rs17468277 (CASP8), rs1982073 (TGFB1), rs2981582 (FGFR2),... BeFree 22532573 Detail
0.002 breast carcinoma Confirmed BC risk SNPs rs17468277 (CASP8), rs1982073 (TGFB1), rs2981582 (FGFR2),... BeFree 22532573 Detail
0.001 breast carcinoma Confirmed BC risk SNPs rs17468277 (CASP8), rs1982073 (TGFB1), rs2981582 (FGFR2),... BeFree 22532573 Detail
0.162 Malignant neoplasm of breast We confirmed associations between rs13387042 (2q35), rs4973768 (SLC4A7), rs10941... BeFree 23893088 Detail
0.002 breast carcinoma We confirmed associations between rs13387042 (2q35), rs4973768 (SLC4A7), rs10941... BeFree 23893088 Detail
0.004 breast carcinoma Confirmed BC risk SNPs rs17468277 (CASP8), rs1982073 (TGFB1), rs2981582 (FGFR2),... BeFree 22532573 Detail
0.170 Malignant neoplasm of breast We confirmed associations between rs13387042 (2q35), rs4973768 (SLC4A7), rs10941... BeFree 23893088 Detail
0.131 Malignant neoplasm of breast Confirmed BC risk SNPs rs17468277 (CASP8), rs1982073 (TGFB1), rs2981582 (FGFR2),... BeFree 22532573 Detail
0.230 Malignant neoplasm of breast We confirmed associations between rs13387042 (2q35), rs4973768 (SLC4A7), rs10941... BeFree 23893088 Detail
<0.001 breast carcinoma We confirmed associations between rs13387042 (2q35), rs4973768 (SLC4A7), rs10941... BeFree 23893088 Detail
0.049 Malignant neoplasm of breast Confirmed BC risk SNPs rs17468277 (CASP8), rs1982073 (TGFB1), rs2981582 (FGFR2),... BeFree 22532573 Detail
0.166 Malignant neoplasm of breast Confirmed BC risk SNPs rs17468277 (CASP8), rs1982073 (TGFB1), rs2981582 (FGFR2),... BeFree 22532573 Detail
0.128 Malignant neoplasm of breast We confirmed associations between rs13387042 (2q35), rs4973768 (SLC4A7), rs10941... BeFree 23893088 Detail
0.090 Malignant neoplasm of breast Confirmed BC risk SNPs rs17468277 (CASP8), rs1982073 (TGFB1), rs2981582 (FGFR2),... BeFree 22532573 Detail
0.004 breast carcinoma We confirmed associations between rs13387042 (2q35), rs4973768 (SLC4A7), rs10941... BeFree 23893088 Detail
0.019 breast carcinoma Confirmed BC risk SNPs rs17468277 (CASP8), rs1982073 (TGFB1), rs2981582 (FGFR2),... BeFree 22532573 Detail
0.230 Malignant neoplasm of breast Confirmed BC risk SNPs rs17468277 (CASP8), rs1982073 (TGFB1), rs2981582 (FGFR2),... BeFree 22532573 Detail
<0.001 Malignant neoplasm of male breast Five SNPs showed a statistically significant association with male breast cancer... BeFree 21949660 Detail
0.010 breast carcinoma We confirmed associations between rs13387042 (2q35), rs4973768 (SLC4A7), rs10941... BeFree 23893088 Detail
<0.001 Breast Cancer, Familial Seven of the 19 markers were significant in a multivariate predictive model of f... BeFree 23354978 Detail
<0.001 Breast Cancer, Familial Seven of the 19 markers were significant in a multivariate predictive model of f... BeFree 23354978 Detail
0.122 Breast Cancer, Familial Seven of the 19 markers were significant in a multivariate predictive model of f... BeFree 23354978 Detail
<0.001 Contralateral breast cancer The A allele of rs13387042 (2q35) was significantly associated with contralatera... BeFree 22087758 Detail
Annotation

Annotations

DescrptionSourceLinks
Two single-nucleotide polymorphisms, rs13387042 (2q35) and rs1219648 (FGFR2 gene), were found to be ... DisGeNET Detail
We focus on TNRC9 rs3803662, FGFR2 rs1219648 and rs2981582, MAP3K1 rs889312, and 2q35 rs13387042, to... DisGeNET Detail
We focus on TNRC9 rs3803662, FGFR2 rs1219648 and rs2981582, MAP3K1 rs889312, and 2q35 rs13387042, to... DisGeNET Detail
Two single-nucleotide polymorphisms, rs13387042 (2q35) and rs1219648 (FGFR2 gene), were found to be ... DisGeNET Detail
We genotyped 17 germline SNPs (FGFR2-rs2981582, FGFR2-rs3750817, TNRC9-rs3803662, 2q35-rs13387042, M... DisGeNET Detail
We genotyped 17 germline SNPs (FGFR2-rs2981582, FGFR2-rs3750817, TNRC9-rs3803662, 2q35-rs13387042, M... DisGeNET Detail
We genotyped 17 germline SNPs (FGFR2-rs2981582, FGFR2-rs3750817, TNRC9-rs3803662, 2q35-rs13387042, M... DisGeNET Detail
We genotyped 17 germline SNPs (FGFR2-rs2981582, FGFR2-rs3750817, TNRC9-rs3803662, 2q35-rs13387042, M... DisGeNET Detail
We genotyped 17 germline SNPs (FGFR2-rs2981582, FGFR2-rs3750817, TNRC9-rs3803662, 2q35-rs13387042, M... DisGeNET Detail
We genotyped 17 germline SNPs (FGFR2-rs2981582, FGFR2-rs3750817, TNRC9-rs3803662, 2q35-rs13387042, M... DisGeNET Detail
In the present study, we evaluated the association between rs3803662 (TOX3, also known as TNRC9), rs... DisGeNET Detail
In the present study, we evaluated the association between rs3803662 (TOX3, also known as TNRC9), rs... DisGeNET Detail
Risk of estrogen receptor-positive and -negative breast cancer and single-nucleotide polymorphism 2q... DisGeNET Detail
Comparing the ORs for male breast cancer with the published ORs for female breast cancer, three SNPs... DisGeNET Detail
Comparing the ORs for male breast cancer with the published ORs for female breast cancer, three SNPs... DisGeNET Detail
Comparing the ORs for male breast cancer with the published ORs for female breast cancer, three SNPs... DisGeNET Detail
Comparing the ORs for male breast cancer with the published ORs for female breast cancer, three SNPs... DisGeNET Detail
Risk of estrogen receptor-positive and -negative breast cancer and single-nucleotide polymorphism 2q... DisGeNET Detail
Comparing the ORs for male breast cancer with the published ORs for female breast cancer, three SNPs... DisGeNET Detail
Comparing the ORs for male breast cancer with the published ORs for female breast cancer, three SNPs... DisGeNET Detail
Comparing the ORs for male breast cancer with the published ORs for female breast cancer, three SNPs... DisGeNET Detail
Comparing the ORs for male breast cancer with the published ORs for female breast cancer, three SNPs... DisGeNET Detail
Seven SNPs were statistically significant (P ≤ 0.05) with the risk of overall breast cancer in the s... DisGeNET Detail
Seven SNPs were statistically significant (P ≤ 0.05) with the risk of overall breast cancer in the s... DisGeNET Detail
Seven SNPs were statistically significant (P ≤ 0.05) with the risk of overall breast cancer in the s... DisGeNET Detail
Seven SNPs were statistically significant (P ≤ 0.05) with the risk of overall breast cancer in the s... DisGeNET Detail
Seven SNPs were statistically significant (P ≤ 0.05) with the risk of overall breast cancer in the s... DisGeNET Detail
Seven SNPs were statistically significant (P ≤ 0.05) with the risk of overall breast cancer in the s... DisGeNET Detail
Seven SNPs were statistically significant (P ≤ 0.05) with the risk of overall breast cancer in the s... DisGeNET Detail
Seven SNPs were statistically significant (P ≤ 0.05) with the risk of overall breast cancer in the s... DisGeNET Detail
Seven SNPs were statistically significant (P ≤ 0.05) with the risk of overall breast cancer in the s... DisGeNET Detail
Seven SNPs were statistically significant (P ≤ 0.05) with the risk of overall breast cancer in the s... DisGeNET Detail
Seven SNPs were statistically significant (P ≤ 0.05) with the risk of overall breast cancer in the s... DisGeNET Detail
Seven SNPs were statistically significant (P ≤ 0.05) with the risk of overall breast cancer in the s... DisGeNET Detail
Confirmed BC risk SNPs rs17468277 (CASP8), rs1982073 (TGFB1), rs2981582 (FGFR2), rs13281615 (8q24), ... DisGeNET Detail
We confirmed associations between rs13387042 (2q35), rs4973768 (SLC4A7), rs10941679 (5p12), rs298158... DisGeNET Detail
We confirmed associations between rs13387042 (2q35), rs4973768 (SLC4A7), rs10941679 (5p12), rs298158... DisGeNET Detail
Confirmed BC risk SNPs rs17468277 (CASP8), rs1982073 (TGFB1), rs2981582 (FGFR2), rs13281615 (8q24), ... DisGeNET Detail
Confirmed BC risk SNPs rs17468277 (CASP8), rs1982073 (TGFB1), rs2981582 (FGFR2), rs13281615 (8q24), ... DisGeNET Detail
Confirmed BC risk SNPs rs17468277 (CASP8), rs1982073 (TGFB1), rs2981582 (FGFR2), rs13281615 (8q24), ... DisGeNET Detail
Five SNPs showed a statistically significant association with male breast cancer: rs13387042 (2q35) ... DisGeNET Detail
Confirmed BC risk SNPs rs17468277 (CASP8), rs1982073 (TGFB1), rs2981582 (FGFR2), rs13281615 (8q24), ... DisGeNET Detail
Confirmed BC risk SNPs rs17468277 (CASP8), rs1982073 (TGFB1), rs2981582 (FGFR2), rs13281615 (8q24), ... DisGeNET Detail
Confirmed BC risk SNPs rs17468277 (CASP8), rs1982073 (TGFB1), rs2981582 (FGFR2), rs13281615 (8q24), ... DisGeNET Detail
We confirmed associations between rs13387042 (2q35), rs4973768 (SLC4A7), rs10941679 (5p12), rs298158... DisGeNET Detail
We confirmed associations between rs13387042 (2q35), rs4973768 (SLC4A7), rs10941679 (5p12), rs298158... DisGeNET Detail
Confirmed BC risk SNPs rs17468277 (CASP8), rs1982073 (TGFB1), rs2981582 (FGFR2), rs13281615 (8q24), ... DisGeNET Detail
We confirmed associations between rs13387042 (2q35), rs4973768 (SLC4A7), rs10941679 (5p12), rs298158... DisGeNET Detail
Confirmed BC risk SNPs rs17468277 (CASP8), rs1982073 (TGFB1), rs2981582 (FGFR2), rs13281615 (8q24), ... DisGeNET Detail
We confirmed associations between rs13387042 (2q35), rs4973768 (SLC4A7), rs10941679 (5p12), rs298158... DisGeNET Detail
We confirmed associations between rs13387042 (2q35), rs4973768 (SLC4A7), rs10941679 (5p12), rs298158... DisGeNET Detail
Confirmed BC risk SNPs rs17468277 (CASP8), rs1982073 (TGFB1), rs2981582 (FGFR2), rs13281615 (8q24), ... DisGeNET Detail
Confirmed BC risk SNPs rs17468277 (CASP8), rs1982073 (TGFB1), rs2981582 (FGFR2), rs13281615 (8q24), ... DisGeNET Detail
We confirmed associations between rs13387042 (2q35), rs4973768 (SLC4A7), rs10941679 (5p12), rs298158... DisGeNET Detail
Confirmed BC risk SNPs rs17468277 (CASP8), rs1982073 (TGFB1), rs2981582 (FGFR2), rs13281615 (8q24), ... DisGeNET Detail
We confirmed associations between rs13387042 (2q35), rs4973768 (SLC4A7), rs10941679 (5p12), rs298158... DisGeNET Detail
Confirmed BC risk SNPs rs17468277 (CASP8), rs1982073 (TGFB1), rs2981582 (FGFR2), rs13281615 (8q24), ... DisGeNET Detail
Confirmed BC risk SNPs rs17468277 (CASP8), rs1982073 (TGFB1), rs2981582 (FGFR2), rs13281615 (8q24), ... DisGeNET Detail
Five SNPs showed a statistically significant association with male breast cancer: rs13387042 (2q35) ... DisGeNET Detail
We confirmed associations between rs13387042 (2q35), rs4973768 (SLC4A7), rs10941679 (5p12), rs298158... DisGeNET Detail
Seven of the 19 markers were significant in a multivariate predictive model of familial breast cance... DisGeNET Detail
Seven of the 19 markers were significant in a multivariate predictive model of familial breast cance... DisGeNET Detail
Seven of the 19 markers were significant in a multivariate predictive model of familial breast cance... DisGeNET Detail
The A allele of rs13387042 (2q35) was significantly associated with contralateral breast cancer in E... DisGeNET Detail
Gene
-
dbSNP
rs13387042 dbSNP
Genome
hg38
Position
chr2:217,041,109-217,041,109
Variant Type
snv
Reference Allele
A
Alternative Allele
G
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))
rs13387042
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.8937
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
14979
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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