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rs121908340

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121908340(C;G)
Make rs121908340(G;G)
ReferenceGRCh38 38.1/141
Chromosome16
Position5075447
GeneALG1
is asnp
is mentioned by
dbSNPrs121908340
ebirs121908340
HLIrs121908340
Exacrs121908340
Varsomers121908340
Maprs121908340
PheGenIrs121908340
hapmaprs121908340
1000 genomesrs121908340
hgdprs121908340
ensemblrs121908340
gopubmedrs121908340
geneviewrs121908340
scholarrs121908340
googlers121908340
pharmgkbrs121908340
gwascentralrs121908340
openSNPrs121908340
23andMers121908340
23andMe allrs121908340
SNP Nexus

SNPshotrs121908340
SNPdbers121908340
MSV3drs121908340
GWAS Ctlgrs121908340
GMAF0.0004591
Max Magnitude0
OMIM605907
Desc
Variant0003
Relatedalso
ClinVar
Risk rs121908340(G;G)
Alt rs121908340(G;G)
Reference rs121908340(C;C)
Significance Pathogenic
Disease Congenital disorder of glycosylation type 1K
Variation info
Gene ALG1
CLNDBN Congenital disorder of glycosylation type 1K
Reversed 0
HGVS NC_000016.9:g.5125448C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000004991.5,