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

rs397508930

From SNPedia

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


Make rs397508930(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43093510
GeneBRCA1
is asnp
is mentioned by
dbSNPrs397508930
dbSNP (classic)rs397508930
ClinGenrs397508930
ebirs397508930
HLIrs397508930
Exacrs397508930
Gnomadrs397508930
Varsomers397508930
LitVarrs397508930
Maprs397508930
PheGenIrs397508930
Biobankrs397508930
1000 genomesrs397508930
hgdprs397508930
ensemblrs397508930
geneviewrs397508930
scholarrs397508930
googlers397508930
pharmgkbrs397508930
gwascentralrs397508930
openSNPrs397508930
23andMers397508930
SNPshotrs397508930
SNPdbers397508930
MSV3drs397508930
GWAS Ctlgrs397508930
Max Magnitude6

aka c.787+1234del

ClinVar
Risk rs397508930(-;-)
Alt rs397508930(-;-)
Reference Rs397508930(C;C)
Significance Untested
Disease Familial cancer of breast
Variation info
Gene BRCA1
CLNDBN Familial cancer of breast
Reversed 1
HGVS NC_000017.10:g.41245527delG
CLNSRC ClinVar
CLNACC RCV000047687.2,