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rs80359048

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;G) 6 BRCA2 variant considered pathogenic for breast cancer
Make rs80359048(G;G)
ReferenceGRCh38 38.1/141
Chromosome13
Position32363286
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359048
ebirs80359048
HLIrs80359048
Exacrs80359048
Varsomers80359048
Maprs80359048
PheGenIrs80359048
hapmaprs80359048
1000 genomesrs80359048
hgdprs80359048
ensemblrs80359048
gopubmedrs80359048
geneviewrs80359048
scholarrs80359048
googlers80359048
pharmgkbrs80359048
gwascentralrs80359048
openSNPrs80359048
23andMers80359048
23andMe allrs80359048
SNP Nexus

SNPshotrs80359048
SNPdbers80359048
MSV3drs80359048
GWAS Ctlgrs80359048
Max Magnitude6
rs80359048, also known as S2695X, c.8084C>G and p.Ser2695Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359048(G,T;G,T)
Alt rs80359048(G,T;G,T)
Reference rs80359048(C;C)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer
Variation info
Gene BRCA2
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 2
Reversed 0
HGVS NC_000013.10:g.32937423C>G; NC_000013.10:g.32937423C>T
CLNSRC ClinVar
CLNACC RCV000045416.2, RCV000113868.2, RCV000045417.2, RCV000113869.1,