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rs111033841

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs111033841(A;T)
Make rs111033841(T;T)
ReferenceGRCh38 38.1/141
Chromosome9
Position34649049
GeneGALT
is asnp
is mentioned by
dbSNPrs111033841
ebirs111033841
HLIrs111033841
Exacrs111033841
Varsomers111033841
Maprs111033841
PheGenIrs111033841
hapmaprs111033841
1000 genomesrs111033841
hgdprs111033841
ensemblrs111033841
gopubmedrs111033841
geneviewrs111033841
scholarrs111033841
googlers111033841
pharmgkbrs111033841
gwascentralrs111033841
openSNPrs111033841
23andMers111033841
23andMe allrs111033841
SNP Nexus

SNPshotrs111033841
SNPdbers111033841
MSV3drs111033841
GWAS Ctlgrs111033841
Max Magnitude0
ClinVar
Risk rs111033841(T;T)
Alt rs111033841(T;T)
Reference rs111033841(A;A)
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.34649046A>T
CLNSRC ARUP GALT
CLNACC RCV000022224.1,