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rs121908443

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121908443(C;T)
Make rs121908443(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position63419380
GeneALG6
is asnp
is mentioned by
dbSNPrs121908443
ebirs121908443
HLIrs121908443
Exacrs121908443
Varsomers121908443
Maprs121908443
PheGenIrs121908443
hapmaprs121908443
1000 genomesrs121908443
hgdprs121908443
ensemblrs121908443
gopubmedrs121908443
geneviewrs121908443
scholarrs121908443
googlers121908443
pharmgkbrs121908443
gwascentralrs121908443
openSNPrs121908443
23andMers121908443
23andMe allrs121908443
SNP Nexus

SNPshotrs121908443
SNPdbers121908443
MSV3drs121908443
GWAS Ctlgrs121908443
Max Magnitude0
OMIM604566
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121908443(G,T;G,T)
Alt rs121908443(G,T;G,T)
Reference rs121908443(C;C)
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.63885051C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000005832.3,