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rs397508996

From SNPedia

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


Make rs397508996(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43092849
GeneBRCA1
is asnp
is mentioned by
dbSNPrs397508996
dbSNP (old)rs397508996
ClinGenrs397508996
ebirs397508996
HLIrs397508996
Exacrs397508996
Gnomadrs397508996
Varsomers397508996
Maprs397508996
PheGenIrs397508996
Biobankrs397508996
1000 genomesrs397508996
hgdprs397508996
ensemblrs397508996
gopubmedrs397508996
geneviewrs397508996
scholarrs397508996
googlers397508996
pharmgkbrs397508996
gwascentralrs397508996
openSNPrs397508996
23andMers397508996
23andMe allrs397508996
SNP Nexus

SNPshotrs397508996
SNPdbers397508996
MSV3drs397508996
GWAS Ctlgrs397508996
Max Magnitude6
ClinVar
Risk rs397508996(-;-)
Alt rs397508996(-;-)
Reference Rs397508996(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.41244866delT
CLNSRC ClinVar
CLNACC RCV000047928.2, RCV000256894.2,