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rs587777294

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587777294(C;T)
Make rs587777294(T;T)
ReferenceGRCh38 38.1/142
Chromosome3
Position119486846
GenePOGLUT1
is asnp
is mentioned by
dbSNPrs587777294
ebirs587777294
HLIrs587777294
Exacrs587777294
Varsomers587777294
Maprs587777294
PheGenIrs587777294
hapmaprs587777294
1000 genomesrs587777294
hgdprs587777294
ensemblrs587777294
gopubmedrs587777294
geneviewrs587777294
scholarrs587777294
googlers587777294
pharmgkbrs587777294
gwascentralrs587777294
openSNPrs587777294
23andMers587777294
23andMe allrs587777294
SNP Nexus

SNPshotrs587777294
SNPdbers587777294
MSV3drs587777294
GWAS Ctlgrs587777294
Max Magnitude0
ClinVar
Risk rs587777294(T;T)
Alt rs587777294(T;T)
Reference rs587777294(C;C)
Significance Pathogenic
Disease Dowling-degos disease 4
Variation info
Gene POGLUT1
CLNDBN Dowling-degos disease 4
Reversed 0
HGVS NC_000003.11:g.119205693C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000114420.2,