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rs397507197

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
(-;T) 6 BRCA1 variant considered pathogenic for breast cancer
(-;TT) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs397507197(TT;TT)
ReferenceGRCh38 38.1/141
Chromosome17
Position43093316
GeneBRCA1
is asnp
is mentioned by
dbSNPrs397507197
dbSNP (classic)rs397507197
ClinGenrs397507197
ebirs397507197
HLIrs397507197
Exacrs397507197
Gnomadrs397507197
Varsomers397507197
LitVarrs397507197
Maprs397507197
PheGenIrs397507197
Biobankrs397507197
1000 genomesrs397507197
hgdprs397507197
ensemblrs397507197
geneviewrs397507197
scholarrs397507197
googlers397507197
pharmgkbrs397507197
gwascentralrs397507197
openSNPrs397507197
23andMers397507197
SNPshotrs397507197
SNPdbers397507197
MSV3drs397507197
GWAS Ctlgrs397507197
Max Magnitude6

rs397507197 has merged into rs80357574

ClinVar
Risk rs397507197(TT;TT) rs397507197(T;T)
Alt rs397507197(TT;TT) rs397507197(T;T)
Reference Rs397507197(-;-)
Significance Pathogenic
Disease Breast-ovarian cancer Hereditary cancer-predisposing syndrome not provided
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1 Hereditary cancer-predisposing syndrome not provided
Reversed 1
HGVS NC_000017.10:g.41245334_41245335dupAA; NC_000017.10:g.41245334dupA
CLNSRC ClinVar
CLNACC RCV000031038.4, RCV000167068.2, RCV000166536.1, RCV000241499.2, RCV000479756.1,