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rs397508833

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;G) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs397508833(G;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position43094449
GeneBRCA1
is asnp
is mentioned by
dbSNPrs397508833
dbSNP (classic)rs397508833
ClinGenrs397508833
ebirs397508833
HLIrs397508833
Exacrs397508833
Gnomadrs397508833
Varsomers397508833
LitVarrs397508833
Maprs397508833
PheGenIrs397508833
Biobankrs397508833
1000 genomesrs397508833
hgdprs397508833
ensemblrs397508833
geneviewrs397508833
scholarrs397508833
googlers397508833
pharmgkbrs397508833
gwascentralrs397508833
openSNPrs397508833
23andMers397508833
SNPshotrs397508833
SNPdbers397508833
MSV3drs397508833
GWAS Ctlgrs397508833
Max Magnitude6
ClinVar
Risk rs397508833(G;G) rs397508833(T;T)
Alt rs397508833(G;G) rs397508833(T;T)
Reference Rs397508833(C;C)
Significance Pathogenic
Disease Hereditary breast and ovarian cancer syndrome Familial cancer of breast Breast-ovarian cancer
Variation info
Gene BRCA1
CLNDBN Hereditary breast and ovarian cancer syndrome Familial cancer of breast Breast-ovarian cancer, familial 1
Reversed 1
HGVS NC_000017.10:g.41246466G>A; NC_000017.10:g.41246466G>C
CLNSRC ClinVar
CLNACC RCV000459861.1, RCV000047333.2, RCV000256553.2,