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rs397509230

From SNPedia

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


Make rs397509230(G;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position43063878
GeneBRCA1
is asnp
is mentioned by
dbSNPrs397509230
dbSNP (classic)rs397509230
ClinGenrs397509230
ebirs397509230
HLIrs397509230
Exacrs397509230
Gnomadrs397509230
Varsomers397509230
LitVarrs397509230
Maprs397509230
PheGenIrs397509230
Biobankrs397509230
1000 genomesrs397509230
hgdprs397509230
ensemblrs397509230
geneviewrs397509230
scholarrs397509230
googlers397509230
pharmgkbrs397509230
gwascentralrs397509230
openSNPrs397509230
23andMers397509230
SNPshotrs397509230
SNPdbers397509230
MSV3drs397509230
GWAS Ctlgrs397509230
Max Magnitude6
ClinVar
Risk rs397509230(A;A) rs397509230(G;G)
Alt rs397509230(A;A) rs397509230(G;G)
Reference Rs397509230(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.41215895A>C; NC_000017.10:g.41215895A>T
CLNSRC ClinVar
CLNACC RCV000048815.2, RCV000409283.1, RCV000256560.1,