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rs397508942

From SNPedia

Merged intors80357715
Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
(-;A) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs397508942(A;A)
ReferenceGRCh38 38.1/141
Chromosome17
Position43093373
GeneBRCA1
is asnp
is mentioned by
dbSNPrs397508942
dbSNP (old)rs397508942
ClinGenrs397508942
ebirs397508942
HLIrs397508942
Exacrs397508942
Gnomadrs397508942
Varsomers397508942
Maprs397508942
PheGenIrs397508942
Biobankrs397508942
1000 genomesrs397508942
hgdprs397508942
ensemblrs397508942
gopubmedrs397508942
geneviewrs397508942
scholarrs397508942
googlers397508942
pharmgkbrs397508942
gwascentralrs397508942
openSNPrs397508942
23andMers397508942
23andMe allrs397508942
SNP Nexus

SNPshotrs397508942
SNPdbers397508942
MSV3drs397508942
GWAS Ctlgrs397508942
StatusMerged into rs80357715
Max Magnitude6
ClinVar
Risk rs397508942(A;A)
Alt rs397508942(A;A)
Reference Rs397508942(;)
Significance Pathogenic
Disease Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer Hereditary cancer-predisposing syndrome
Variation info
Gene BRCA1
CLNDBN Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 1 Hereditary cancer-predisposing syndrome
Reversed 1
HGVS NC_000017.10:g.41245391dupT
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000047735.3, RCV000111778.3, RCV000210761.1,