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

rs111033810

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs111033810(A;T)
Make rs111033810(T;T)
ReferenceGRCh38 38.1/141
Chromosome9
Position34649511
GeneGALT
is asnp
is mentioned by
dbSNPrs111033810
dbSNP (classic)rs111033810
ClinGenrs111033810
ebirs111033810
HLIrs111033810
Exacrs111033810
Gnomadrs111033810
Varsomers111033810
LitVarrs111033810
Maprs111033810
PheGenIrs111033810
Biobankrs111033810
1000 genomesrs111033810
hgdprs111033810
ensemblrs111033810
geneviewrs111033810
scholarrs111033810
googlers111033810
pharmgkbrs111033810
gwascentralrs111033810
openSNPrs111033810
23andMers111033810
SNPshotrs111033810
SNPdbers111033810
MSV3drs111033810
GWAS Ctlgrs111033810
Max Magnitude0
ClinVar
Risk rs111033810(G;G) rs111033810(T;T)
Alt rs111033810(G;G) rs111033810(T;T)
Reference Rs111033810(A;A)
Significance Pathogenic
Disease not specified Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
Variation info
Gene GALT
CLNDBN not specified Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
Reversed 0
HGVS NC_000009.11:g.34649508A>G; NC_000009.11:g.34649508A>T
CLNSRC UniProtKB (protein)
CLNACC RCV000277828.1, RCV000022261.1,