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rs111033646

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs111033646(A;C)
Make rs111033646(C;C)
ReferenceGRCh38 38.1/141
Chromosome9
Position34647119
GeneGALT
is asnp
is mentioned by
dbSNPrs111033646
ebirs111033646
HLIrs111033646
Exacrs111033646
Varsomers111033646
Maprs111033646
PheGenIrs111033646
hapmaprs111033646
1000 genomesrs111033646
hgdprs111033646
ensemblrs111033646
gopubmedrs111033646
geneviewrs111033646
scholarrs111033646
googlers111033646
pharmgkbrs111033646
gwascentralrs111033646
openSNPrs111033646
23andMers111033646
23andMe allrs111033646
SNP Nexus

SNPshotrs111033646
SNPdbers111033646
MSV3drs111033646
GWAS Ctlgrs111033646
Max Magnitude0
ClinVar
Risk rs111033646(C;C)
Alt rs111033646(C;C)
Reference rs111033646(A;A)
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.34647116A>C
CLNSRC ARUP GALT
CLNACC RCV000022054.1,