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rs587777434

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(TA;TA) 0 common in clinvar
Make rs587777434(-;-)
Make rs587777434(-;TA)
ReferenceGRCh38 38.1/142
ChromosomeX
Position48905475
GeneSLC35A2
is asnp
is mentioned by
dbSNPrs587777434
ebirs587777434
HLIrs587777434
Exacrs587777434
Varsomers587777434
Maprs587777434
PheGenIrs587777434
hapmaprs587777434
1000 genomesrs587777434
hgdprs587777434
ensemblrs587777434
gopubmedrs587777434
geneviewrs587777434
scholarrs587777434
googlers587777434
pharmgkbrs587777434
gwascentralrs587777434
openSNPrs587777434
23andMers587777434
23andMe allrs587777434
SNP Nexus

SNPshotrs587777434
SNPdbers587777434
MSV3drs587777434
GWAS Ctlgrs587777434
Max Magnitude0
ClinVar
Risk rs587777434(;)
Alt rs587777434(;)
Reference rs587777434(TA;TA)
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.48762752_48762753delTA
CLNSRC OMIM Allelic Variant
CLNACC RCV000122744.2,