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

rs397508848

From SNPedia

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


Make rs397508848(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43094298
GeneBRCA1
is asnp
is mentioned by
dbSNPrs397508848
dbSNP (classic)rs397508848
ClinGenrs397508848
ebirs397508848
HLIrs397508848
Exacrs397508848
Gnomadrs397508848
Varsomers397508848
LitVarrs397508848
Maprs397508848
PheGenIrs397508848
Biobankrs397508848
1000 genomesrs397508848
hgdprs397508848
ensemblrs397508848
geneviewrs397508848
scholarrs397508848
googlers397508848
pharmgkbrs397508848
gwascentralrs397508848
openSNPrs397508848
23andMers397508848
SNPshotrs397508848
SNPdbers397508848
MSV3drs397508848
GWAS Ctlgrs397508848
Max Magnitude6
ClinVar
Risk rs397508848(-;-)
Alt rs397508848(-;-)
Reference Rs397508848(AT;AT)
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.41246315_41246316delAT
CLNSRC ClinVar
CLNACC RCV000047386.2, RCV000256538.2,