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rs587776962

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(G;G) 0 common in clinvar
Make rs587776962(C;T)
Make rs587776962(T;T)
ReferenceGRCh38 38.1/142
ChromosomeX
Position48911634
GeneSLC35A2
is asnp
is mentioned by
dbSNPrs587776962
ebirs587776962
HLIrs587776962
Exacrs587776962
Varsomers587776962
Maprs587776962
PheGenIrs587776962
hapmaprs587776962
1000 genomesrs587776962
hgdprs587776962
ensemblrs587776962
gopubmedrs587776962
geneviewrs587776962
scholarrs587776962
googlers587776962
pharmgkbrs587776962
gwascentralrs587776962
openSNPrs587776962
23andMers587776962
23andMe allrs587776962
SNP Nexus

SNPshotrs587776962
SNPdbers587776962
MSV3drs587776962
GWAS Ctlgrs587776962
Max Magnitude0
ClinVar
Risk rs587776962(C,T;C,T)
Alt rs587776962(C,T;C,T)
Reference rs587776962(G;G)
Significance Pathogenic
Disease CONGENITAL DISORDER OF GLYCOSYLATION
Variation info
Gene SLC35A2
CLNDBN CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm
Reversed 1
HGVS NC_000023.10:g.48768911C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000043516.4,