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rs397509330

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs397509330(C;T)
Make rs397509330(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position43094681
GeneBRCA1
is asnp
is mentioned by
dbSNPrs397509330
ebirs397509330
HLIrs397509330
Exacrs397509330
Varsomers397509330
Maprs397509330
PheGenIrs397509330
hapmaprs397509330
1000 genomesrs397509330
hgdprs397509330
ensemblrs397509330
gopubmedrs397509330
geneviewrs397509330
scholarrs397509330
googlers397509330
pharmgkbrs397509330
gwascentralrs397509330
openSNPrs397509330
23andMers397509330
23andMe allrs397509330
SNP Nexus

SNPshotrs397509330
SNPdbers397509330
MSV3drs397509330
GWAS Ctlgrs397509330
Max Magnitude0
ClinVar
Risk rs397509330(T;T)
Alt rs397509330(T;T)
Reference rs397509330(C;C)
Significance Pathogenic
Disease Familial cancer of breast Tumor susceptibility linked to germline BAP1 mutations Breast-ovarian cancer
Variation info
Gene BRCA1
CLNDBN Familial cancer of breast Tumor susceptibility linked to germline BAP1 mutations Breast-ovarian cancer, familial 1
Reversed 1
HGVS NC_000017.10:g.41246698G>A
CLNSRC ClinVar
CLNACC RCV000049172.2, RCV000217707.1, RCV000238750.1,