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rs587777295

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs587777295(A;C)
Make rs587777295(C;C)
ReferenceGRCh38 38.1/142
Chromosome3
Position119490549
GenePOGLUT1
is asnp
is mentioned by
dbSNPrs587777295
ebirs587777295
HLIrs587777295
Exacrs587777295
Varsomers587777295
Maprs587777295
PheGenIrs587777295
hapmaprs587777295
1000 genomesrs587777295
hgdprs587777295
ensemblrs587777295
gopubmedrs587777295
geneviewrs587777295
scholarrs587777295
googlers587777295
pharmgkbrs587777295
gwascentralrs587777295
openSNPrs587777295
23andMers587777295
23andMe allrs587777295
SNP Nexus

SNPshotrs587777295
SNPdbers587777295
MSV3drs587777295
GWAS Ctlgrs587777295
Max Magnitude0
ClinVar
Risk rs587777295(C;C)
Alt rs587777295(C;C)
Reference rs587777295(A;A)
Significance Pathogenic
Disease Dowling-degos disease 4
Variation info
Gene POGLUT1
CLNDBN Dowling-degos disease 4
Reversed 0
HGVS NC_000003.11:g.119209396A>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000114421.2,