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rs587776961

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
(G;G) 0 common in clinvar
Make rs587776961(C;T)
Make rs587776961(T;T)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position48904918
GeneSLC35A2
is asnp
is mentioned by
dbSNPrs587776961
ebirs587776961
HLIrs587776961
Exacrs587776961
Varsomers587776961
Maprs587776961
PheGenIrs587776961
hapmaprs587776961
1000 genomesrs587776961
hgdprs587776961
ensemblrs587776961
gopubmedrs587776961
geneviewrs587776961
scholarrs587776961
googlers587776961
pharmgkbrs587776961
gwascentralrs587776961
openSNPrs587776961
23andMers587776961
23andMe allrs587776961
SNP Nexus

SNPshotrs587776961
SNPdbers587776961
MSV3drs587776961
GWAS Ctlgrs587776961
Max Magnitude0
ClinVar
Risk rs587776961(C,T;C,T)
Alt rs587776961(C,T;C,T)
Reference rs587776961(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.48762195C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000043515.7,