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rs111033785

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs111033785(-;-)
Make rs111033785(-;C)
ReferenceGRCh38 38.1/141
Chromosome9
Position34649454
GeneGALT
is asnp
is mentioned by
dbSNPrs111033785
ebirs111033785
HLIrs111033785
Exacrs111033785
Varsomers111033785
Maprs111033785
PheGenIrs111033785
hapmaprs111033785
1000 genomesrs111033785
hgdprs111033785
ensemblrs111033785
gopubmedrs111033785
geneviewrs111033785
scholarrs111033785
googlers111033785
pharmgkbrs111033785
gwascentralrs111033785
openSNPrs111033785
23andMers111033785
23andMe allrs111033785
SNP Nexus

SNPshotrs111033785
SNPdbers111033785
MSV3drs111033785
GWAS Ctlgrs111033785
Max Magnitude0
ClinVar
Risk rs111033785(;)
Alt rs111033785(;)
Reference rs111033785(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.34649451delC
CLNSRC ClinVar
CLNACC RCV000022237.1,