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

rs121908293

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121908293(A;C)
Make rs121908293(C;C)
ReferenceGRCh38 38.1/141
Chromosome11
Position78127393
GeneALG8
is asnp
is mentioned by
dbSNPrs121908293
ebirs121908293
HLIrs121908293
Exacrs121908293
Varsomers121908293
Maprs121908293
PheGenIrs121908293
hapmaprs121908293
1000 genomesrs121908293
hgdprs121908293
ensemblrs121908293
gopubmedrs121908293
geneviewrs121908293
scholarrs121908293
googlers121908293
pharmgkbrs121908293
gwascentralrs121908293
openSNPrs121908293
23andMers121908293
23andMe allrs121908293
SNP Nexus

SNPshotrs121908293
SNPdbers121908293
MSV3drs121908293
GWAS Ctlgrs121908293
Max Magnitude0
OMIM608103
Desc
Variant0004
Relatedalso
ClinVar
Risk rs121908293(C,T;C,T)
Alt rs121908293(C,T;C,T)
Reference rs121908293(A;A)
Significance Pathogenic
Disease Congenital disorder of glycosylation type 1H
Variation info
Gene ALG8
CLNDBN Congenital disorder of glycosylation type 1H
Reversed 1
HGVS NC_000011.9:g.77838439T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000002670.3,