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rs397509049

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;G) 6 BRCA1 variant considered pathogenic for breast cancer
(G;G) 0 common in clinvar


Make rs397509049(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43092269
GeneBRCA1
is asnp
is mentioned by
dbSNPrs397509049
dbSNP (classic)rs397509049
ClinGenrs397509049
ebirs397509049
HLIrs397509049
Exacrs397509049
Gnomadrs397509049
Varsomers397509049
LitVarrs397509049
Maprs397509049
PheGenIrs397509049
Biobankrs397509049
1000 genomesrs397509049
hgdprs397509049
ensemblrs397509049
geneviewrs397509049
scholarrs397509049
googlers397509049
pharmgkbrs397509049
gwascentralrs397509049
openSNPrs397509049
23andMers397509049
SNPshotrs397509049
SNPdbers397509049
MSV3drs397509049
GWAS Ctlgrs397509049
Max Magnitude6

BRCA1, c.3262delG (p.Val1088Phefs)

ClinVar
Risk rs397509049(-;-)
Alt rs397509049(-;-)
Reference Rs397509049(G;G)
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.41244286delC
CLNSRC ClinVar
CLNACC RCV000048117.2, RCV000239096.2,