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rs273900736

From SNPedia

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


Make rs273900736(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43074490
GeneBRCA1
is asnp
is mentioned by
dbSNPrs273900736
ebirs273900736
HLIrs273900736
Exacrs273900736
Varsomers273900736
Maprs273900736
PheGenIrs273900736
hapmaprs273900736
1000 genomesrs273900736
hgdprs273900736
ensemblrs273900736
gopubmedrs273900736
geneviewrs273900736
scholarrs273900736
googlers273900736
pharmgkbrs273900736
gwascentralrs273900736
openSNPrs273900736
23andMers273900736
23andMe allrs273900736
SNP Nexus

SNPshotrs273900736
SNPdbers273900736
MSV3drs273900736
GWAS Ctlgrs273900736
Max Magnitude6
rs273900736, also known as 4635delG, c.4516_4516delG and p.Asp1506Ilefs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs273900736(;)
Alt rs273900736(;)
Reference rs273900736(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.41226507delC
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000048584.2, RCV000112352.1,