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rs1799954

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in complete genomics
(T;T) 2
Make rs1799954(C;T)
ReferenceGRCh38 38.1/141
Chromosome13
Position32340455
GeneBRCA2
is asnp
is mentioned by
dbSNPrs1799954
ebirs1799954
HLIrs1799954
Exacrs1799954
Varsomers1799954
Maprs1799954
PheGenIrs1799954
hapmaprs1799954
1000 genomesrs1799954
hgdprs1799954
ensemblrs1799954
gopubmedrs1799954
geneviewrs1799954
scholarrs1799954
googlers1799954
pharmgkbrs1799954
gwascentralrs1799954
openSNPrs1799954
23andMers1799954
23andMe allrs1799954
SNP Nexus

SNPshotrs1799954
SNPdbers1799954
MSV3drs1799954
GWAS Ctlgrs1799954
GMAF0.001837
Max Magnitude2
? (C;C) (C;T) (T;T) 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 (T).

Neighborrs4987117
Distance356


ClinVar
Risk rs1799954(T;T)
Alt rs1799954(T;T)
Reference rs1799954(C;C)
Significance Other
Disease not provided Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer not specified Hereditary cancer-predisposing syndrome
Variation info
Gene BRCA2
CLNDBN not provided Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 2 not specified Hereditary cancer-predisposing syndrome
Reversed 0
HGVS NC_000013.10:g.32914592C>T
CLNSRC ClinVar Counsyl GeneDx Invitae
CLNACC RCV000034452.3, RCV000044844.6, RCV000113532.6, RCV000120331.4, RCV000162509.1,