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rs397507248

From SNPedia

Merged intors80357886
Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs397507248(-;G)
Make rs397507248(G;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position43051105
GeneBRCA1
is asnp
is mentioned by
dbSNPrs397507248
dbSNP (classic)rs397507248
ClinGenrs397507248
ebirs397507248
HLIrs397507248
Exacrs397507248
Gnomadrs397507248
Varsomers397507248
LitVarrs397507248
Maprs397507248
PheGenIrs397507248
Biobankrs397507248
1000 genomesrs397507248
hgdprs397507248
ensemblrs397507248
geneviewrs397507248
scholarrs397507248
googlers397507248
pharmgkbrs397507248
gwascentralrs397507248
openSNPrs397507248
23andMers397507248
SNPshotrs397507248
SNPdbers397507248
MSV3drs397507248
GWAS Ctlgrs397507248
StatusMerged into rs80357886
Max Magnitude0
ClinVar
Risk rs397507248(G;G)
Alt rs397507248(G;G)
Reference Rs397507248(;)
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.41203123dupC
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000048912.2, RCV000112602.3,