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rs111033806

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs111033806(A;A)
Make rs111033806(A;G)
ReferenceGRCh38 38.1/141
Chromosome9
Position34649523
GeneGALT
is asnp
is mentioned by
dbSNPrs111033806
ebirs111033806
HLIrs111033806
Exacrs111033806
Varsomers111033806
Maprs111033806
PheGenIrs111033806
hapmaprs111033806
1000 genomesrs111033806
hgdprs111033806
ensemblrs111033806
gopubmedrs111033806
geneviewrs111033806
scholarrs111033806
googlers111033806
pharmgkbrs111033806
gwascentralrs111033806
openSNPrs111033806
23andMers111033806
23andMe allrs111033806
SNP Nexus

SNPshotrs111033806
SNPdbers111033806
MSV3drs111033806
GWAS Ctlgrs111033806
Max Magnitude0
ClinVar
Risk rs111033806(A,T;A,T)
Alt rs111033806(A,T;A,T)
Reference rs111033806(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.34649520G>A; NC_000009.11:g.34649520G>T
CLNSRC ARUP GALT
CLNACC RCV000022263.1, RCV000022264.1,