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rs80359130

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs80359130(C;T)
Make rs80359130(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome13
Position32376769
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359130
ebirs80359130
HLIrs80359130
Exacrs80359130
Varsomers80359130
Maprs80359130
PheGenIrs80359130
hapmaprs80359130
1000 genomesrs80359130
hgdprs80359130
ensemblrs80359130
gopubmedrs80359130
geneviewrs80359130
scholarrs80359130
googlers80359130
pharmgkbrs80359130
gwascentralrs80359130
openSNPrs80359130
23andMers80359130
23andMe allrs80359130
SNP Nexus

SNPshotrs80359130
SNPdbers80359130
MSV3drs80359130
GWAS Ctlgrs80359130
Max Magnitude0
ClinVar
Risk rs80359130(G,T;G,T)
Alt rs80359130(G,T;G,T)
Reference rs80359130(C;C)
Significance Pathogenic
Disease Fanconi anemia Familial cancer of breast Breast-ovarian cancer Tumor susceptibility linked to germline BAP1 mutations
Variation info
Gene BRCA2
CLNDBN Fanconi anemia, complementation group D1 Familial cancer of breast Breast-ovarian cancer, familial 2 Tumor susceptibility linked to germline BAP1 mutations
Reversed 0
HGVS NC_000013.10:g.32950906C>A; NC_000013.10:g.32950906C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000009926.6, RCV000045610.2, RCV000113990.1, RCV000223485.1,