Have questions? Visit https://www.reddit.com/r/SNPedia

rs782531869

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs782531869(C;C)
Make rs782531869(C;G)
ReferenceGRCh38.p2 38.2/147
Chromosome17
Position28357762
GenePOLDIP2, TMEM199
is asnp
is mentioned by
dbSNPrs782531869
ebirs782531869
HLIrs782531869
Exacrs782531869
Varsomers782531869
Maprs782531869
PheGenIrs782531869
hapmaprs782531869
1000 genomesrs782531869
hgdprs782531869
ensemblrs782531869
gopubmedrs782531869
geneviewrs782531869
scholarrs782531869
googlers782531869
pharmgkbrs782531869
gwascentralrs782531869
openSNPrs782531869
23andMers782531869
23andMe allrs782531869
SNP Nexus

SNPshotrs782531869
SNPdbers782531869
MSV3drs782531869
GWAS Ctlgrs782531869
Max Magnitude0
ClinVar
Risk rs782531869(C;C)
Alt rs782531869(C;C)
Reference rs782531869(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.26684785G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000208697.1, RCV000210790.1,