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rs111033634

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs111033634(C;TT)
Make rs111033634(TT;TT)
ReferenceGRCh38 38.1/141
Chromosome9
Position34646745
GeneGALT
is asnp
is mentioned by
dbSNPrs111033634
ebirs111033634
HLIrs111033634
Exacrs111033634
Varsomers111033634
Maprs111033634
PheGenIrs111033634
hapmaprs111033634
1000 genomesrs111033634
hgdprs111033634
ensemblrs111033634
gopubmedrs111033634
geneviewrs111033634
scholarrs111033634
googlers111033634
pharmgkbrs111033634
gwascentralrs111033634
openSNPrs111033634
23andMers111033634
23andMe allrs111033634
SNP Nexus

SNPshotrs111033634
SNPdbers111033634
MSV3drs111033634
GWAS Ctlgrs111033634
Max Magnitude0
ClinVar
Risk rs111033634(TT;TT)
Alt rs111033634(TT;TT)
Reference rs111033634(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.34646742delCinsTT
CLNSRC HGMD
CLNACC RCV000022043.4,