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rs397508952

From SNPedia

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


Make rs397508952(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43093314
GeneBRCA1
is asnp
is mentioned by
dbSNPrs397508952
dbSNP (classic)rs397508952
ClinGenrs397508952
ebirs397508952
HLIrs397508952
Exacrs397508952
Gnomadrs397508952
Varsomers397508952
LitVarrs397508952
Maprs397508952
PheGenIrs397508952
Biobankrs397508952
1000 genomesrs397508952
hgdprs397508952
ensemblrs397508952
geneviewrs397508952
scholarrs397508952
googlers397508952
pharmgkbrs397508952
gwascentralrs397508952
openSNPrs397508952
23andMers397508952
SNPshotrs397508952
SNPdbers397508952
MSV3drs397508952
GWAS Ctlgrs397508952
Max Magnitude6

rs397508952 has merged into rs80357802

ClinVar
Risk rs397508952(-;-)
Alt rs397508952(-;-)
Reference Rs397508952(AA;AA)
Significance Pathogenic
Disease Familial cancer of breast not provided Breast-ovarian cancer
Variation info
Gene BRCA1
CLNDBN Familial cancer of breast not provided Breast-ovarian cancer, familial 1
Reversed 1
HGVS NC_000017.10:g.41245331_41245332delTT
CLNSRC ClinVar
CLNACC RCV000047764.3, RCV000235592.1, RCV000238948.3,