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rs587777296

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs587777296(-;-)
Make rs587777296(-;C)
Make rs587777296(C;C)
ReferenceGRCh38 38.1/142
Chromosome3
Position119490588
GenePOGLUT1
is asnp
is mentioned by
dbSNPrs587777296
ebirs587777296
HLIrs587777296
Exacrs587777296
Varsomers587777296
Maprs587777296
PheGenIrs587777296
hapmaprs587777296
1000 genomesrs587777296
hgdprs587777296
ensemblrs587777296
gopubmedrs587777296
geneviewrs587777296
scholarrs587777296
googlers587777296
pharmgkbrs587777296
gwascentralrs587777296
openSNPrs587777296
23andMers587777296
23andMe allrs587777296
SNP Nexus

SNPshotrs587777296
SNPdbers587777296
MSV3drs587777296
GWAS Ctlgrs587777296
Max Magnitude0
ClinVar
Risk rs587777296(C;C)
Alt rs587777296(C;C)
Reference rs587777296(;)
Significance Pathogenic
Disease Dowling-degos disease 4
Variation info
Gene POGLUT1
CLNDBN Dowling-degos disease 4
Reversed 0
HGVS NC_000003.11:g.119209435dupC
CLNSRC OMIM Allelic Variant
CLNACC RCV000114422.2,