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rs397508838

From SNPedia

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


Make rs397508838(A;A)
ReferenceGRCh38 38.1/141
Chromosome17
Position43094416
GeneBRCA1
is asnp
is mentioned by
dbSNPrs397508838
dbSNP (classic)rs397508838
ClinGenrs397508838
ebirs397508838
HLIrs397508838
Exacrs397508838
Gnomadrs397508838
Varsomers397508838
LitVarrs397508838
Maprs397508838
PheGenIrs397508838
Biobankrs397508838
1000 genomesrs397508838
hgdprs397508838
ensemblrs397508838
geneviewrs397508838
scholarrs397508838
googlers397508838
pharmgkbrs397508838
gwascentralrs397508838
openSNPrs397508838
23andMers397508838
SNPshotrs397508838
SNPdbers397508838
MSV3drs397508838
GWAS Ctlgrs397508838
Max Magnitude6
ClinVar
Risk rs397508838(A;A)
Alt rs397508838(A;A)
Reference Rs397508838(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.41246433C>T
CLNSRC ClinVar
CLNACC RCV000047347.2, RCV000241007.2,