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rs397509012

From SNPedia

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


Make rs397509012(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43092726
GeneBRCA1
is asnp
is mentioned by
dbSNPrs397509012
ebirs397509012
HLIrs397509012
Exacrs397509012
Varsomers397509012
Maprs397509012
PheGenIrs397509012
hapmaprs397509012
1000 genomesrs397509012
hgdprs397509012
ensemblrs397509012
gopubmedrs397509012
geneviewrs397509012
scholarrs397509012
googlers397509012
pharmgkbrs397509012
gwascentralrs397509012
openSNPrs397509012
23andMers397509012
23andMe allrs397509012
SNP Nexus

SNPshotrs397509012
SNPdbers397509012
MSV3drs397509012
GWAS Ctlgrs397509012
Max Magnitude6
rs397509012, also known as 2924delA, c.2805_2806delA and p.Asp936Ilefs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs397509012(;)
Alt rs397509012(;)
Reference rs397509012(A;A)
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.41244743delT
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000047974.2, RCV000111942.1,