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rs1801426

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in complete genomics
(G;G) 2
Make rs1801426(A;G)
ReferenceGRCh38 38.1/141
Chromosome13
Position32398747
GeneBRCA2
is asnp
is mentioned by
dbSNPrs1801426
ebirs1801426
HLIrs1801426
Exacrs1801426
Varsomers1801426
Maprs1801426
PheGenIrs1801426
hapmaprs1801426
1000 genomesrs1801426
hgdprs1801426
ensemblrs1801426
gopubmedrs1801426
geneviewrs1801426
scholarrs1801426
googlers1801426
pharmgkbrs1801426
gwascentralrs1801426
openSNPrs1801426
23andMers1801426
23andMe allrs1801426
SNP Nexus

SNPshotrs1801426
SNPdbers1801426
MSV3drs1801426
GWAS Ctlgrs1801426
GMAF0.04362
Max Magnitude2
? (A;A) (A;G) (G;G) 28

This SNP, a variant in the BRCA2 gene, is 1 of 25 SNPs reported to represent independently minor, but cumulatively significant, increased risk for breast cancer. [PMID 17341484]

For details of all 25 SNPs in this group, along with the two methods used to calculate overall risk estimates for breast cancer, refer to the SNPedia breast cancer entry.

For this particular SNP, the risk (minor) allele is (G).

Neighborrs11571833
Distance258


ClinVar
Risk rs1801426(G;G)
Alt rs1801426(G;G)
Reference rs1801426(A;A)
Significance Non-pathogenic
Disease not provided Breast-ovarian cancer not specified Hereditary cancer-predisposing syndrome Familial cancer of breast
Variation info
Gene BRCA2
CLNDBN not provided Breast-ovarian cancer, familial 2 not specified Hereditary cancer-predisposing syndrome Familial cancer of breast
Reversed 0
HGVS NC_000013.10:g.32972884A>G
CLNSRC HGMD
CLNACC RCV000034426.3, RCV000112853.5, RCV000120373.5, RCV000130982.3, RCV000157754.1,



GET Evidence
BRCA2-I3412V
aa_change Ile3412Val
aa_change_short I3412V
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.0378323
summary