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rs111033753

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs111033753(G;T)
Make rs111033753(T;T)
ReferenceGRCh38 38.1/141
Chromosome9
Position34648456
GeneGALT
is asnp
is mentioned by
dbSNPrs111033753
ebirs111033753
HLIrs111033753
Exacrs111033753
Varsomers111033753
Maprs111033753
PheGenIrs111033753
hapmaprs111033753
1000 genomesrs111033753
hgdprs111033753
ensemblrs111033753
gopubmedrs111033753
geneviewrs111033753
scholarrs111033753
googlers111033753
pharmgkbrs111033753
gwascentralrs111033753
openSNPrs111033753
23andMers111033753
23andMe allrs111033753
SNP Nexus

SNPshotrs111033753
SNPdbers111033753
MSV3drs111033753
GWAS Ctlgrs111033753
Max Magnitude0
ClinVar
Risk rs111033753(T;T)
Alt rs111033753(T;T)
Reference rs111033753(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.34648453G>T
CLNSRC ARUP GALT
CLNACC RCV000022182.1,