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rs869025586

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs869025586(C;C)
Make rs869025586(C;G)
ReferenceGRCh38.p2 38.2/147
Chromosome17
Position28357710
GenePOLDIP2, TMEM199
is asnp
is mentioned by
dbSNPrs869025586
ebirs869025586
HLIrs869025586
Exacrs869025586
Varsomers869025586
Maprs869025586
PheGenIrs869025586
hapmaprs869025586
1000 genomesrs869025586
hgdprs869025586
ensemblrs869025586
gopubmedrs869025586
geneviewrs869025586
scholarrs869025586
googlers869025586
pharmgkbrs869025586
gwascentralrs869025586
openSNPrs869025586
23andMers869025586
23andMe allrs869025586
SNP Nexus

SNPshotrs869025586
SNPdbers869025586
MSV3drs869025586
GWAS Ctlgrs869025586
Max Magnitude0
ClinVar
Risk rs869025586(C;C)
Alt rs869025586(C;C)
Reference rs869025586(G;G)
Significance Pathogenic
Disease CONGENITAL DISORDER OF GLYCOSYLATION Congenital disorders of glycosylation type II
Variation info
Gene POLDIP2 TMEM199
CLNDBN CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIp Congenital disorders of glycosylation type II
Reversed 0
HGVS NC_000017.10:g.26684733G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000208624.1, RCV000210786.1,