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rs273903794

From SNPedia

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


Make rs273903794(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43094567
GeneBRCA1
is asnp
is mentioned by
dbSNPrs273903794
ebirs273903794
HLIrs273903794
Exacrs273903794
Varsomers273903794
Maprs273903794
PheGenIrs273903794
hapmaprs273903794
1000 genomesrs273903794
hgdprs273903794
ensemblrs273903794
gopubmedrs273903794
geneviewrs273903794
scholarrs273903794
googlers273903794
pharmgkbrs273903794
gwascentralrs273903794
openSNPrs273903794
23andMers273903794
23andMe allrs273903794
SNP Nexus

SNPshotrs273903794
SNPdbers273903794
MSV3drs273903794
GWAS Ctlgrs273903794
Max Magnitude6
rs273903794, also known as 1083delG, c.964_964delG and p.Ala322Leufs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs273903794(;)
Alt rs273903794(;)
Reference rs273903794(G;G)
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.41246584delC
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000049207.2, RCV000077635.3,