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rs121908444

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121908444(C;C)
Make rs121908444(C;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position63436928
GeneALG6
is asnp
is mentioned by
dbSNPrs121908444
ebirs121908444
HLIrs121908444
Exacrs121908444
Varsomers121908444
Maprs121908444
PheGenIrs121908444
hapmaprs121908444
1000 genomesrs121908444
hgdprs121908444
ensemblrs121908444
gopubmedrs121908444
geneviewrs121908444
scholarrs121908444
googlers121908444
pharmgkbrs121908444
gwascentralrs121908444
openSNPrs121908444
23andMers121908444
23andMe allrs121908444
SNP Nexus

SNPshotrs121908444
SNPdbers121908444
MSV3drs121908444
GWAS Ctlgrs121908444
Max Magnitude0
OMIM604566
Desc
Variant0002
Relatedalso
ClinVar
Risk rs121908444(C;C)
Alt rs121908444(C;C)
Reference rs121908444(T;T)
Significance Pathogenic
Disease Congenital disorder of glycosylation type 1C
Variation info
Gene ALG6
CLNDBN Congenital disorder of glycosylation type 1C
Reversed 0
HGVS NC_000001.10:g.63902599T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000005833.3,