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rs28939378

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(G;G) 0
Make rs28939378(C;T)
Make rs28939378(T;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position5078789
GeneALG1
is asnp
is mentioned by
dbSNPrs28939378
ebirs28939378
HLIrs28939378
Exacrs28939378
Varsomers28939378
Maprs28939378
PheGenIrs28939378
hapmaprs28939378
1000 genomesrs28939378
hgdprs28939378
ensemblrs28939378
gopubmedrs28939378
geneviewrs28939378
scholarrs28939378
googlers28939378
pharmgkbrs28939378
gwascentralrs28939378
openSNPrs28939378
23andMers28939378
23andMe allrs28939378
SNP Nexus

SNPshotrs28939378
SNPdbers28939378
MSV3drs28939378
GWAS Ctlgrs28939378
Max Magnitude0
OMIM605907
DescCONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ik
Variant0001
Relatedalso


ClinVar
Risk rs28939378(T;T)
Alt rs28939378(T;T)
Reference rs28939378(C;C)
Significance Other
Disease Congenital disorder of glycosylation type 1K not provided Inborn genetic diseases
Variation info
Gene ALG1
CLNDBN Congenital disorder of glycosylation type 1K not provided Inborn genetic diseases
Reversed 0
HGVS NC_000016.9:g.5128790C>T
CLNSRC HGMD OMIM Allelic Variant
CLNACC RCV000004989.6, RCV000081987.3, RCV000210565.1,