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rs111033818

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs111033818(C;T)
Make rs111033818(T;T)
ReferenceGRCh38 38.1/141
Chromosome9
Position34649562
GeneGALT
is asnp
is mentioned by
dbSNPrs111033818
ebirs111033818
HLIrs111033818
Exacrs111033818
Varsomers111033818
Maprs111033818
PheGenIrs111033818
hapmaprs111033818
1000 genomesrs111033818
hgdprs111033818
ensemblrs111033818
gopubmedrs111033818
geneviewrs111033818
scholarrs111033818
googlers111033818
pharmgkbrs111033818
gwascentralrs111033818
openSNPrs111033818
23andMers111033818
23andMe allrs111033818
SNP Nexus

SNPshotrs111033818
SNPdbers111033818
MSV3drs111033818
GWAS Ctlgrs111033818
Max Magnitude0
ClinVar
Risk rs111033818(G,T;G,T)
Alt rs111033818(G,T;G,T)
Reference rs111033818(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.34649559C>T
CLNSRC ARUP GALT
CLNACC RCV000022271.1,