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rs121907933

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121907933(A;A)
Make rs121907933(A;G)
ReferenceGRCh38 38.1/141
Chromosome22
Position49910602
GeneALG12
is asnp
is mentioned by
dbSNPrs121907933
ebirs121907933
HLIrs121907933
Exacrs121907933
Varsomers121907933
Maprs121907933
PheGenIrs121907933
hapmaprs121907933
1000 genomesrs121907933
hgdprs121907933
ensemblrs121907933
gopubmedrs121907933
geneviewrs121907933
scholarrs121907933
googlers121907933
pharmgkbrs121907933
gwascentralrs121907933
openSNPrs121907933
23andMers121907933
23andMe allrs121907933
SNP Nexus

SNPshotrs121907933
SNPdbers121907933
MSV3drs121907933
GWAS Ctlgrs121907933
Max Magnitude0
OMIM607144
Desc
Variant0004
Relatedalso
ClinVar
Risk rs121907933(A;A)
Alt rs121907933(A;A)
Reference rs121907933(G;G)
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.50304250C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000003605.4,