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rs111033693

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs111033693(C;T)
Make rs111033693(T;T)
ReferenceGRCh38 38.1/141
Chromosome9
Position34647896
GeneGALT
is asnp
is mentioned by
dbSNPrs111033693
ebirs111033693
HLIrs111033693
Exacrs111033693
Varsomers111033693
Maprs111033693
PheGenIrs111033693
hapmaprs111033693
1000 genomesrs111033693
hgdprs111033693
ensemblrs111033693
gopubmedrs111033693
geneviewrs111033693
scholarrs111033693
googlers111033693
pharmgkbrs111033693
gwascentralrs111033693
openSNPrs111033693
23andMers111033693
23andMe allrs111033693
SNP Nexus

SNPshotrs111033693
SNPdbers111033693
MSV3drs111033693
GWAS Ctlgrs111033693
Max Magnitude0
ClinVar
Risk rs111033693(G,T;G,T)
Alt rs111033693(G,T;G,T)
Reference rs111033693(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.34647893C>G; NC_000009.11:g.34647893C>T
CLNSRC ARUP GALT HGMD
CLNACC RCV000022112.1, RCV000022113.4,