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rs273903793

From SNPedia

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


Make rs273903793(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43094627
GeneBRCA1
is asnp
is mentioned by
dbSNPrs273903793
ebirs273903793
HLIrs273903793
Exacrs273903793
Varsomers273903793
Maprs273903793
PheGenIrs273903793
hapmaprs273903793
1000 genomesrs273903793
hgdprs273903793
ensemblrs273903793
gopubmedrs273903793
geneviewrs273903793
scholarrs273903793
googlers273903793
pharmgkbrs273903793
gwascentralrs273903793
openSNPrs273903793
23andMers273903793
23andMe allrs273903793
SNP Nexus

SNPshotrs273903793
SNPdbers273903793
MSV3drs273903793
GWAS Ctlgrs273903793
Max Magnitude6
rs273903793, also known as 1023delG, c.904_904delG and p.Ala302Leufs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs273903793(;)
Alt rs273903793(;)
Reference rs273903793(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.41246644delC
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000049184.2, RCV000111508.1,