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rs111033689

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs111033689(-;-)
Make rs111033689(-;T)
ReferenceGRCh38 38.1/141
Chromosome9
Position34647854
GeneGALT
is asnp
is mentioned by
dbSNPrs111033689
ebirs111033689
HLIrs111033689
Exacrs111033689
Varsomers111033689
Maprs111033689
PheGenIrs111033689
hapmaprs111033689
1000 genomesrs111033689
hgdprs111033689
ensemblrs111033689
gopubmedrs111033689
geneviewrs111033689
scholarrs111033689
googlers111033689
pharmgkbrs111033689
gwascentralrs111033689
openSNPrs111033689
23andMers111033689
23andMe allrs111033689
SNP Nexus

SNPshotrs111033689
SNPdbers111033689
MSV3drs111033689
GWAS Ctlgrs111033689
Max Magnitude0
ClinVar
Risk rs111033689(;)
Alt rs111033689(;)
Reference rs111033689(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.34647851delT
CLNSRC ClinVar
CLNACC RCV000022104.1,