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rs369488804

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs369488804(C;T)
Make rs369488804(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome17
Position28357690
GenePOLDIP2, TMEM199
is asnp
is mentioned by
dbSNPrs369488804
ebirs369488804
HLIrs369488804
Exacrs369488804
Varsomers369488804
Maprs369488804
PheGenIrs369488804
hapmaprs369488804
1000 genomesrs369488804
hgdprs369488804
ensemblrs369488804
gopubmedrs369488804
geneviewrs369488804
scholarrs369488804
googlers369488804
pharmgkbrs369488804
gwascentralrs369488804
openSNPrs369488804
23andMers369488804
23andMe allrs369488804
SNP Nexus

SNPshotrs369488804
SNPdbers369488804
MSV3drs369488804
GWAS Ctlgrs369488804
Max Magnitude0
ClinVar
Risk rs369488804(G,T;G,T)
Alt rs369488804(G,T;G,T)
Reference rs369488804(C;C)
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.26684713C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000208686.1, RCV000210814.1,