Have questions? Visit https://www.reddit.com/r/SNPedia

rs397507246

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
(-;C) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs397507246(-;-)
Make rs397507246(C;C)
ReferenceGRCh38 38.1/141
Chromosome17
Position43057063
GeneBRCA1
is asnp
is mentioned by
dbSNPrs397507246
ebirs397507246
HLIrs397507246
Exacrs397507246
Varsomers397507246
Maprs397507246
PheGenIrs397507246
hapmaprs397507246
1000 genomesrs397507246
hgdprs397507246
ensemblrs397507246
gopubmedrs397507246
geneviewrs397507246
scholarrs397507246
googlers397507246
pharmgkbrs397507246
gwascentralrs397507246
openSNPrs397507246
23andMers397507246
23andMe allrs397507246
SNP Nexus

SNPshotrs397507246
SNPdbers397507246
MSV3drs397507246
GWAS Ctlgrs397507246
Max Magnitude6

c.5266dupC (p.Gln1756Profs)

ClinVar
Risk rs397507246(C;C)
Alt rs397507246(C;C)
Reference rs397507246(;)
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 RCV000019246.16, RCV000019247.3, RCV000056287.6, RCV000119097.6, RCV000131328.3,