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rs111033666

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs111033666(G;G)
Make rs111033666(G;T)
ReferenceGRCh38 38.1/141
Chromosome9
Position34647504
GeneGALT
is asnp
is mentioned by
dbSNPrs111033666
ebirs111033666
HLIrs111033666
Exacrs111033666
Varsomers111033666
Maprs111033666
PheGenIrs111033666
hapmaprs111033666
1000 genomesrs111033666
hgdprs111033666
ensemblrs111033666
gopubmedrs111033666
geneviewrs111033666
scholarrs111033666
googlers111033666
pharmgkbrs111033666
gwascentralrs111033666
openSNPrs111033666
23andMers111033666
23andMe allrs111033666
SNP Nexus

SNPshotrs111033666
SNPdbers111033666
MSV3drs111033666
GWAS Ctlgrs111033666
Max Magnitude0
ClinVar
Risk rs111033666(C,G;C,G)
Alt rs111033666(C,G;C,G)
Reference rs111033666(T;T)
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.34647501T>C; NC_000009.11:g.34647501T>G
CLNSRC ARUP GALT
CLNACC RCV000022075.1, RCV000022074.1,