Have questions? Visit https://www.reddit.com/r/SNPedia

rs80357636

From SNPedia

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


Make rs80357636(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43092845
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357636
ebirs80357636
HLIrs80357636
Exacrs80357636
Varsomers80357636
Maprs80357636
PheGenIrs80357636
hapmaprs80357636
1000 genomesrs80357636
hgdprs80357636
ensemblrs80357636
gopubmedrs80357636
geneviewrs80357636
scholarrs80357636
googlers80357636
pharmgkbrs80357636
gwascentralrs80357636
openSNPrs80357636
23andMers80357636
23andMe allrs80357636
SNP Nexus

SNPshotrs80357636
SNPdbers80357636
MSV3drs80357636
GWAS Ctlgrs80357636
Max Magnitude6
rs80357636, also known as 2804delAA, c.2685_2686delAA and p.Gln895_Ser896=fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357636(;)
Alt rs80357636(;)
Reference rs80357636(AA;AA)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer
Variation info
Gene BRCA1
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 1
Reversed 1
HGVS NC_000017.10:g.41244862_41244863delTT
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000047931.2, RCV000077525.4,