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rs397508963

From SNPedia

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


Make rs397508963(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43093174
GeneBRCA1
is asnp
is mentioned by
dbSNPrs397508963
dbSNP (classic)rs397508963
ClinGenrs397508963
ebirs397508963
HLIrs397508963
Exacrs397508963
Gnomadrs397508963
Varsomers397508963
LitVarrs397508963
Maprs397508963
PheGenIrs397508963
Biobankrs397508963
1000 genomesrs397508963
hgdprs397508963
ensemblrs397508963
geneviewrs397508963
scholarrs397508963
googlers397508963
pharmgkbrs397508963
gwascentralrs397508963
openSNPrs397508963
23andMers397508963
SNPshotrs397508963
SNPdbers397508963
MSV3drs397508963
GWAS Ctlgrs397508963
Max Magnitude6

aka c.787+1570del

ClinVar
Risk rs397508963(-;-)
Alt rs397508963(-;-)
Reference Rs397508963(T;T)
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.41245191delA
CLNSRC ClinVar
CLNACC RCV000047813.2, RCV000241215.2,