Have questions? Visit https://www.reddit.com/r/SNPedia

rs121907931

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121907931(C;T)
Make rs121907931(T;T)
ReferenceGRCh38 38.1/141
Chromosome22
Position49913480
GeneALG12
is asnp
is mentioned by
dbSNPrs121907931
ebirs121907931
HLIrs121907931
Exacrs121907931
Varsomers121907931
Maprs121907931
PheGenIrs121907931
hapmaprs121907931
1000 genomesrs121907931
hgdprs121907931
ensemblrs121907931
gopubmedrs121907931
geneviewrs121907931
scholarrs121907931
googlers121907931
pharmgkbrs121907931
gwascentralrs121907931
openSNPrs121907931
23andMers121907931
23andMe allrs121907931
SNP Nexus

SNPshotrs121907931
SNPdbers121907931
MSV3drs121907931
GWAS Ctlgrs121907931
Max Magnitude0
OMIM607144
Desc
Variant0002
Relatedalso
ClinVar
Risk rs121907931(T;T)
Alt rs121907931(T;T)
Reference rs121907931(C;C)
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.50307128G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000003603.4,