Have questions? Visit https://www.reddit.com/r/SNPedia

rs111033802

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs111033802(A;A)
Make rs111033802(A;G)
ReferenceGRCh38 38.1/141
Chromosome9
Position34649488
GeneGALT
is asnp
is mentioned by
dbSNPrs111033802
dbSNP (classic)rs111033802
ClinGenrs111033802
ebirs111033802
HLIrs111033802
Exacrs111033802
Gnomadrs111033802
Varsomers111033802
LitVarrs111033802
Maprs111033802
PheGenIrs111033802
Biobankrs111033802
1000 genomesrs111033802
hgdprs111033802
ensemblrs111033802
geneviewrs111033802
scholarrs111033802
googlers111033802
pharmgkbrs111033802
gwascentralrs111033802
openSNPrs111033802
23andMers111033802
SNPshotrs111033802
SNPdbers111033802
MSV3drs111033802
GWAS Ctlgrs111033802
Max Magnitude0
ClinVar
Risk rs111033802(A;A)
Alt rs111033802(A;A)
Reference Rs111033802(G;G)
Significance Pathogenic
Disease Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
Variation info
Gene GALT
CLNDBN Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
Reversed 0
HGVS NC_000009.11:g.34649485G>A
CLNSRC UniProtKB (protein)
CLNACC RCV000022254.1,