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rs397507224

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs397507224(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position43091540
GeneBRCA1
is asnp
is mentioned by
dbSNPrs397507224
dbSNP (classic)rs397507224
ClinGenrs397507224
ebirs397507224
HLIrs397507224
Exacrs397507224
Gnomadrs397507224
Varsomers397507224
LitVarrs397507224
Maprs397507224
PheGenIrs397507224
Biobankrs397507224
1000 genomesrs397507224
hgdprs397507224
ensemblrs397507224
geneviewrs397507224
scholarrs397507224
googlers397507224
pharmgkbrs397507224
gwascentralrs397507224
openSNPrs397507224
23andMers397507224
SNPshotrs397507224
SNPdbers397507224
MSV3drs397507224
GWAS Ctlgrs397507224
Max Magnitude6
ClinVar
Risk rs397507224(T;T)
Alt rs397507224(T;T)
Reference Rs397507224(C;C)
Significance Pathogenic
Disease Breast-ovarian cancer Familial cancer of breast
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1 Familial cancer of breast
Reversed 1
HGVS NC_000017.10:g.41243557G>A
CLNSRC ClinVar
CLNACC RCV000031139.5, RCV000048402.2,