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rs111033688

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs111033688(C;T)
Make rs111033688(T;T)
ReferenceGRCh38 38.1/141
Chromosome9
Position34647848
GeneGALT
is asnp
is mentioned by
dbSNPrs111033688
ebirs111033688
HLIrs111033688
Exacrs111033688
Varsomers111033688
Maprs111033688
PheGenIrs111033688
hapmaprs111033688
1000 genomesrs111033688
hgdprs111033688
ensemblrs111033688
gopubmedrs111033688
geneviewrs111033688
scholarrs111033688
googlers111033688
pharmgkbrs111033688
gwascentralrs111033688
openSNPrs111033688
23andMers111033688
23andMe allrs111033688
SNP Nexus

SNPshotrs111033688
SNPdbers111033688
MSV3drs111033688
GWAS Ctlgrs111033688
Max Magnitude0
ClinVar
Risk rs111033688(T;T)
Alt rs111033688(T;T)
Reference rs111033688(C;C)
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.34647845C>T
CLNSRC ARUP GALT
CLNACC RCV000022102.1,