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rs587777297

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587777297(C;T)
Make rs587777297(T;T)
ReferenceGRCh38 38.1/142
Chromosome3
Position119490588
GenePOGLUT1
is asnp
is mentioned by
dbSNPrs587777297
ebirs587777297
HLIrs587777297
Exacrs587777297
Varsomers587777297
Maprs587777297
PheGenIrs587777297
hapmaprs587777297
1000 genomesrs587777297
hgdprs587777297
ensemblrs587777297
gopubmedrs587777297
geneviewrs587777297
scholarrs587777297
googlers587777297
pharmgkbrs587777297
gwascentralrs587777297
openSNPrs587777297
23andMers587777297
23andMe allrs587777297
SNP Nexus

SNPshotrs587777297
SNPdbers587777297
MSV3drs587777297
GWAS Ctlgrs587777297
Max Magnitude0
ClinVar
Risk rs587777297(T;T)
Alt rs587777297(T;T)
Reference rs587777297(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.119209435C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000114423.2,