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rs759244819

From SNPedia

Orientationplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs759244819(-;-)
Make rs759244819(-;T)
ReferenceGRCh38.p2 38.2/147
Chromosome22
Position49904498
GeneALG12
is asnp
is mentioned by
dbSNPrs759244819
ebirs759244819
HLIrs759244819
Exacrs759244819
Varsomers759244819
Maprs759244819
PheGenIrs759244819
hapmaprs759244819
1000 genomesrs759244819
hgdprs759244819
ensemblrs759244819
gopubmedrs759244819
geneviewrs759244819
scholarrs759244819
googlers759244819
pharmgkbrs759244819
gwascentralrs759244819
openSNPrs759244819
23andMers759244819
23andMe allrs759244819
SNP Nexus

SNPshotrs759244819
SNPdbers759244819
MSV3drs759244819
GWAS Ctlgrs759244819
Max Magnitude0
ClinVar
Risk rs759244819(;)
Alt rs759244819(;)
Reference rs759244819(T;T)
Significance Pathogenic
Disease Congenital disorder of glycosylation type 1G
Variation info
Gene ALG12
CLNDBN Congenital disorder of glycosylation type 1G
Reversed 0
HGVS NC_000022.10:g.50298146delT
CLNSRC
CLNACC RCV000234879.1,