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rs80357831

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;A) 6 BRCA1 variant considered pathogenic for breast cancer
(C;C) 0 common in clinvar
Make rs80357831(-;-)
Make rs80357831(A;A)
ReferenceGRCh38 38.1/141
Chromosome17
Position43091881
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357831
ebirs80357831
HLIrs80357831
Exacrs80357831
Varsomers80357831
Maprs80357831
PheGenIrs80357831
hapmaprs80357831
1000 genomesrs80357831
hgdprs80357831
ensemblrs80357831
gopubmedrs80357831
geneviewrs80357831
scholarrs80357831
googlers80357831
pharmgkbrs80357831
gwascentralrs80357831
openSNPrs80357831
23andMers80357831
23andMe allrs80357831
SNP Nexus

SNPshotrs80357831
SNPdbers80357831
MSV3drs80357831
GWAS Ctlgrs80357831
Max Magnitude6
rs80357831, also known as 3768insA, c.3649_3650insA and p.Ser1217?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357831(AC,TC;AC,TC)
Alt rs80357831(AC,TC;AC,TC)
Reference rs80357831(C;C)
Significance Pathogenic
Disease Breast-ovarian cancer Familial cancer of breast
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1 Familial cancer of breast
Reversed 1
HGVS NC_000017.10:g.41243898_41243899insT; NC_000017.10:g.41243899dupA
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000112146.1, RCV000048272.2,