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rs869025583

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs869025583(G;T)
Make rs869025583(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome2
Position130342095
GeneCCDC115, IMP4
is asnp
is mentioned by
dbSNPrs869025583
ebirs869025583
HLIrs869025583
Exacrs869025583
Varsomers869025583
Maprs869025583
PheGenIrs869025583
hapmaprs869025583
1000 genomesrs869025583
hgdprs869025583
ensemblrs869025583
gopubmedrs869025583
geneviewrs869025583
scholarrs869025583
googlers869025583
pharmgkbrs869025583
gwascentralrs869025583
openSNPrs869025583
23andMers869025583
23andMe allrs869025583
SNP Nexus

SNPshotrs869025583
SNPdbers869025583
MSV3drs869025583
GWAS Ctlgrs869025583
Max Magnitude0
ClinVar
Risk rs869025583(T;T)
Alt rs869025583(T;T)
Reference rs869025583(G;G)
Significance Pathogenic
Disease CONGENITAL DISORDER OF GLYCOSYLATION Congenital disorders of glycosylation type II
Variation info
Gene IMP4 CCDC115
CLNDBN CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIo Congenital disorders of glycosylation type II
Reversed 1
HGVS NC_000002.11:g.131099668C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000208588.2, RCV000210765.1,