Have questions? Visit https://www.reddit.com/r/SNPedia

rs397509258

From SNPedia

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


Make rs397509258(A;A)
ReferenceGRCh38 38.1/141
Chromosome17
Position43051088
GeneBRCA1
is asnp
is mentioned by
dbSNPrs397509258
dbSNP (classic)rs397509258
ClinGenrs397509258
ebirs397509258
HLIrs397509258
Exacrs397509258
Gnomadrs397509258
Varsomers397509258
LitVarrs397509258
Maprs397509258
PheGenIrs397509258
Biobankrs397509258
1000 genomesrs397509258
hgdprs397509258
ensemblrs397509258
geneviewrs397509258
scholarrs397509258
googlers397509258
pharmgkbrs397509258
gwascentralrs397509258
openSNPrs397509258
23andMers397509258
SNPshotrs397509258
SNPdbers397509258
MSV3drs397509258
GWAS Ctlgrs397509258
Max Magnitude6
ClinVar
Risk rs397509258(A;A) rs397509258(G;G)
Alt rs397509258(A;A) rs397509258(G;G)
Reference Rs397509258(T;T)
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.41203105A>C; NC_000017.10:g.41203105A>T
CLNSRC ClinVar
CLNACC RCV000412196.1, RCV000048918.2, RCV000257181.2,