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rs80357937

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;G) 6 BRCA1 variant considered pathogenic for breast cancer
(G;G) 0 common in clinvar


Make rs80357937(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43092518
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357937
ebirs80357937
HLIrs80357937
Exacrs80357937
Varsomers80357937
Maprs80357937
PheGenIrs80357937
hapmaprs80357937
1000 genomesrs80357937
hgdprs80357937
ensemblrs80357937
gopubmedrs80357937
geneviewrs80357937
scholarrs80357937
googlers80357937
pharmgkbrs80357937
gwascentralrs80357937
openSNPrs80357937
23andMers80357937
23andMe allrs80357937
SNP Nexus

SNPshotrs80357937
SNPdbers80357937
MSV3drs80357937
GWAS Ctlgrs80357937
Max Magnitude6
rs80357937, also known as 3132delG, c.3013_3013delG and p.Glu1005Asnfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357937(;)
Alt rs80357937(;)
Reference rs80357937(G;G)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer Tumor susceptibility linked to germline BAP1 mutations
Variation info
Gene BRCA1
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 1 Tumor susceptibility linked to germline BAP1 mutations
Reversed 1
HGVS NC_000017.10:g.41244535delC
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000048041.2, RCV000077533.3, RCV000213487.1,