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rs587777435

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
(TG;TG) 0 common in clinvar
Make rs587777435(-;-)
Make rs587777435(-;A)
ReferenceGRCh38 38.1/142
ChromosomeX
Position48904937
GeneSLC35A2
is asnp
is mentioned by
dbSNPrs587777435
ebirs587777435
HLIrs587777435
Exacrs587777435
Varsomers587777435
Maprs587777435
PheGenIrs587777435
hapmaprs587777435
1000 genomesrs587777435
hgdprs587777435
ensemblrs587777435
gopubmedrs587777435
geneviewrs587777435
scholarrs587777435
googlers587777435
pharmgkbrs587777435
gwascentralrs587777435
openSNPrs587777435
23andMers587777435
23andMe allrs587777435
SNP Nexus

SNPshotrs587777435
SNPdbers587777435
MSV3drs587777435
GWAS Ctlgrs587777435
Max Magnitude0
ClinVar
Risk rs587777435(AG,G;AG,G)
Alt rs587777435(AG,G;AG,G)
Reference rs587777435(TG;TG)
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.48762214delA
CLNSRC OMIM Allelic Variant
CLNACC RCV000122745.2,