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rs587777436

From SNPedia

Orientationplus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(G;G) 0 common in clinvar
Make rs587777436(A;A)
Make rs587777436(A;G)
ReferenceGRCh38 38.1/142
ChromosomeX
Position48905271
GeneSLC35A2
is asnp
is mentioned by
dbSNPrs587777436
dbSNP (classic)rs587777436
ClinGenrs587777436
ebirs587777436
HLIrs587777436
Exacrs587777436
Gnomadrs587777436
Varsomers587777436
LitVarrs587777436
Maprs587777436
PheGenIrs587777436
Biobankrs587777436
1000 genomesrs587777436
hgdprs587777436
ensemblrs587777436
geneviewrs587777436
scholarrs587777436
googlers587777436
pharmgkbrs587777436
gwascentralrs587777436
openSNPrs587777436
23andMers587777436
SNPshotrs587777436
SNPdbers587777436
MSV3drs587777436
GWAS Ctlgrs587777436
Max Magnitude0
ClinVar
Risk rs587777436(A;A) Rs587777436(G;G)
Alt rs587777436(A;A) Rs587777436(G;G)
Reference Rs587777436(C;C)
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.48762548G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000122746.3,