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rs111033652

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs111033652(C;T)
Make rs111033652(T;T)
ReferenceGRCh38 38.1/141
Chromosome9
Position34647140
GeneGALT
is asnp
is mentioned by
dbSNPrs111033652
ebirs111033652
HLIrs111033652
Exacrs111033652
Varsomers111033652
Maprs111033652
PheGenIrs111033652
hapmaprs111033652
1000 genomesrs111033652
hgdprs111033652
ensemblrs111033652
gopubmedrs111033652
geneviewrs111033652
scholarrs111033652
googlers111033652
pharmgkbrs111033652
gwascentralrs111033652
openSNPrs111033652
23andMers111033652
23andMe allrs111033652
SNP Nexus

SNPshotrs111033652
SNPdbers111033652
MSV3drs111033652
GWAS Ctlgrs111033652
Max Magnitude0
ClinVar
Risk rs111033652(T;T)
Alt rs111033652(T;T)
Reference rs111033652(C;C)
Significance Pathogenic
Disease Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase not provided
Variation info
Gene GALT
CLNDBN Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase not provided
Reversed 0
HGVS NC_000009.11:g.34647137C>T
CLNSRC ARUP GALT HGMD
CLNACC RCV000022059.1, RCV000078214.4,