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rs121907934

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121907934(C;C)
Make rs121907934(C;T)
ReferenceGRCh38 38.1/141
Chromosome22
Position49910085
GeneALG12
is asnp
is mentioned by
dbSNPrs121907934
ebirs121907934
HLIrs121907934
Exacrs121907934
Varsomers121907934
Maprs121907934
PheGenIrs121907934
hapmaprs121907934
1000 genomesrs121907934
hgdprs121907934
ensemblrs121907934
gopubmedrs121907934
geneviewrs121907934
scholarrs121907934
googlers121907934
pharmgkbrs121907934
gwascentralrs121907934
openSNPrs121907934
23andMers121907934
23andMe allrs121907934
SNP Nexus

SNPshotrs121907934
SNPdbers121907934
MSV3drs121907934
GWAS Ctlgrs121907934
Max Magnitude0
OMIM607144
Desc
Variant0005
Relatedalso
ClinVar
Risk rs121907934(C;C)
Alt rs121907934(C;C)
Reference rs121907934(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.50303733A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000003606.3,