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rs111033649

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs111033649(C;T)
Make rs111033649(T;T)
ReferenceGRCh38 38.1/141
Chromosome9
Position34647166
GeneGALT
is asnp
is mentioned by
dbSNPrs111033649
ebirs111033649
HLIrs111033649
Exacrs111033649
Varsomers111033649
Maprs111033649
PheGenIrs111033649
hapmaprs111033649
1000 genomesrs111033649
hgdprs111033649
ensemblrs111033649
gopubmedrs111033649
geneviewrs111033649
scholarrs111033649
googlers111033649
pharmgkbrs111033649
gwascentralrs111033649
openSNPrs111033649
23andMers111033649
23andMe allrs111033649
SNP Nexus

SNPshotrs111033649
SNPdbers111033649
MSV3drs111033649
GWAS Ctlgrs111033649
Max Magnitude0
ClinVar
Risk rs111033649(T;T)
Alt rs111033649(T;T)
Reference rs111033649(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.34647163C>T
CLNSRC ARUP GALT
CLNACC RCV000022062.1,