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rs111033658

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs111033658(C;T)
Make rs111033658(T;T)
ReferenceGRCh38 38.1/141
Chromosome9
Position34647205
GeneGALT
is asnp
is mentioned by
dbSNPrs111033658
ebirs111033658
HLIrs111033658
Exacrs111033658
Varsomers111033658
Maprs111033658
PheGenIrs111033658
hapmaprs111033658
1000 genomesrs111033658
hgdprs111033658
ensemblrs111033658
gopubmedrs111033658
geneviewrs111033658
scholarrs111033658
googlers111033658
pharmgkbrs111033658
gwascentralrs111033658
openSNPrs111033658
23andMers111033658
23andMe allrs111033658
SNP Nexus

SNPshotrs111033658
SNPdbers111033658
MSV3drs111033658
GWAS Ctlgrs111033658
Max Magnitude0
ClinVar
Risk rs111033658(T;T)
Alt rs111033658(T;T)
Reference rs111033658(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.34647202C>T
CLNSRC ARUP GALT HGMD
CLNACC RCV000022067.4,