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rs28942090

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0
(T;T) 0 common in clinvar
Make rs28942090(G;G)
Make rs28942090(G;T)
ReferenceGRCh38 38.1/141
Chromosome22
Position49910479
GeneALG12
is asnp
is mentioned by
dbSNPrs28942090
ebirs28942090
HLIrs28942090
Exacrs28942090
Varsomers28942090
Maprs28942090
PheGenIrs28942090
hapmaprs28942090
1000 genomesrs28942090
hgdprs28942090
ensemblrs28942090
gopubmedrs28942090
geneviewrs28942090
scholarrs28942090
googlers28942090
pharmgkbrs28942090
gwascentralrs28942090
openSNPrs28942090
23andMers28942090
23andMe allrs28942090
SNP Nexus

SNPshotrs28942090
SNPdbers28942090
MSV3drs28942090
GWAS Ctlgrs28942090
Max Magnitude0
OMIM607144
DescCONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ig
Variant0001
Relatedalso


ClinVar
Risk rs28942090(G;G)
Alt rs28942090(G;G)
Reference rs28942090(T;T)
Significance Pathogenic
Disease Congenital disorder of glycosylation type 1G
Variation info
Gene ALG12
CLNDBN Congenital disorder of glycosylation type 1G
Reversed 1
HGVS NC_000022.10:g.50304127A>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000003602.3,