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rs397508922

From SNPedia

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


Make rs397508922(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43093579
GeneBRCA1
is asnp
is mentioned by
dbSNPrs397508922
dbSNP (old)rs397508922
ClinGenrs397508922
ebirs397508922
HLIrs397508922
Exacrs397508922
Varsomers397508922
Maprs397508922
PheGenIrs397508922
Biobankrs397508922
1000 genomesrs397508922
hgdprs397508922
ensemblrs397508922
gopubmedrs397508922
geneviewrs397508922
scholarrs397508922
googlers397508922
pharmgkbrs397508922
gwascentralrs397508922
openSNPrs397508922
23andMers397508922
23andMe allrs397508922
SNP Nexus

SNPshotrs397508922
SNPdbers397508922
MSV3drs397508922
GWAS Ctlgrs397508922
Max Magnitude6

BRCA1, c.1952delA (p.Lys651Argfs)

ClinVar
Risk rs397508922(-;-)
Alt rs397508922(-;-)
Reference Rs397508922(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.41245596delT
CLNSRC ClinVar
CLNACC RCV000074568.4, RCV000241429.2,