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rs869312860

From SNPedia

Orientationminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs869312860(A;G)
Make rs869312860(G;G)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position48905109
GeneSLC35A2
is asnp
is mentioned by
dbSNPrs869312860
ebirs869312860
HLIrs869312860
Exacrs869312860
Varsomers869312860
Maprs869312860
PheGenIrs869312860
hapmaprs869312860
1000 genomesrs869312860
hgdprs869312860
ensemblrs869312860
gopubmedrs869312860
geneviewrs869312860
scholarrs869312860
googlers869312860
pharmgkbrs869312860
gwascentralrs869312860
openSNPrs869312860
23andMers869312860
23andMe allrs869312860
SNP Nexus

SNPshotrs869312860
SNPdbers869312860
MSV3drs869312860
GWAS Ctlgrs869312860
Max Magnitude0
ClinVar
Risk rs869312860(G;G)
Alt rs869312860(G;G)
Reference rs869312860(A;A)
Significance Probable-Pathogenic
Disease CONGENITAL DISORDER OF GLYCOSYLATION
Variation info
Gene SLC35A2
CLNDBN CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm
Reversed 1
HGVS NC_000023.10:g.48762386T>C
CLNSRC
CLNACC RCV000210405.1,