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rs397507247

From SNPedia

Merged intors80357906
Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
(-;C) 4 linked to certain hereditary cancers
Make rs397507247(C;C)
ReferenceGRCh38 38.1/141
Chromosome17
Position43057062
GeneBRCA1
is asnp
is mentioned by
dbSNPrs397507247
dbSNP (classic)rs397507247
ClinGenrs397507247
ebirs397507247
HLIrs397507247
Exacrs397507247
Gnomadrs397507247
Varsomers397507247
LitVarrs397507247
Maprs397507247
PheGenIrs397507247
Biobankrs397507247
1000 genomesrs397507247
hgdprs397507247
ensemblrs397507247
geneviewrs397507247
scholarrs397507247
googlers397507247
pharmgkbrs397507247
gwascentralrs397507247
openSNPrs397507247
23andMers397507247
SNPshotrs397507247
SNPdbers397507247
MSV3drs397507247
GWAS Ctlgrs397507247
StatusMerged into rs80357906
Max Magnitude4
ClinVar
Risk rs397507247(C;C)
Alt rs397507247(C;C)
Reference Rs397507247(;)
Significance Other
Disease Breast-ovarian cancer Pancreatic cancer Familial cancer of breast Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1 Pancreatic cancer, susceptibility to Familial cancer of breast Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome
Reversed 1
HGVS NC_000017.10:g.41209082dupG
CLNSRC Breast Cancer Information Core (BRCA1) Inc. OMIM Allelic Variant
CLNACC RCV000019246.18, RCV000019247.3, RCV000056287.6, RCV000119097.6, RCV000131328.4,