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rs397509202

From SNPedia

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


Make rs397509202(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43099834
GeneBRCA1
is asnp
is mentioned by
dbSNPrs397509202
dbSNP (classic)rs397509202
ClinGenrs397509202
ebirs397509202
HLIrs397509202
Exacrs397509202
Gnomadrs397509202
Varsomers397509202
LitVarrs397509202
Maprs397509202
PheGenIrs397509202
Biobankrs397509202
1000 genomesrs397509202
hgdprs397509202
ensemblrs397509202
geneviewrs397509202
scholarrs397509202
googlers397509202
pharmgkbrs397509202
gwascentralrs397509202
openSNPrs397509202
23andMers397509202
SNPshotrs397509202
SNPdbers397509202
MSV3drs397509202
GWAS Ctlgrs397509202
Max Magnitude6

aka c.488del

ClinVar
Risk rs397509202(-;-)
Alt rs397509202(-;-)
Reference Rs397509202(G;G)
Significance Untested
Disease Familial cancer of breast
Variation info
Gene BRCA1
CLNDBN Familial cancer of breast
Reversed 1
HGVS NC_000017.10:g.41251851delC
CLNSRC ClinVar
CLNACC RCV000048685.2,