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rs751325113

From SNPedia

Orientationplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs751325113(A;G)
Make rs751325113(G;G)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position130342034
GeneCCDC115, IMP4
is asnp
is mentioned by
dbSNPrs751325113
ebirs751325113
HLIrs751325113
Exacrs751325113
Varsomers751325113
Maprs751325113
PheGenIrs751325113
hapmaprs751325113
1000 genomesrs751325113
hgdprs751325113
ensemblrs751325113
gopubmedrs751325113
geneviewrs751325113
scholarrs751325113
googlers751325113
pharmgkbrs751325113
gwascentralrs751325113
openSNPrs751325113
23andMers751325113
23andMe allrs751325113
SNP Nexus

SNPshotrs751325113
SNPdbers751325113
MSV3drs751325113
GWAS Ctlgrs751325113
Max Magnitude0
ClinVar
Risk rs751325113(G;G)
Alt rs751325113(G;G)
Reference rs751325113(A;A)
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 0
HGVS NC_000002.11:g.131099607A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000208585.1, RCV000210795.1, RCV000239375.1,