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rs111033815

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs111033815(A;A)
Make rs111033815(A;C)
ReferenceGRCh38 38.1/141
Chromosome9
Position34649539
GeneGALT
is asnp
is mentioned by
dbSNPrs111033815
ebirs111033815
HLIrs111033815
Exacrs111033815
Varsomers111033815
Maprs111033815
PheGenIrs111033815
hapmaprs111033815
1000 genomesrs111033815
hgdprs111033815
ensemblrs111033815
gopubmedrs111033815
geneviewrs111033815
scholarrs111033815
googlers111033815
pharmgkbrs111033815
gwascentralrs111033815
openSNPrs111033815
23andMers111033815
23andMe allrs111033815
SNP Nexus

SNPshotrs111033815
SNPdbers111033815
MSV3drs111033815
GWAS Ctlgrs111033815
Max Magnitude0
ClinVar
Risk rs111033815(A;A)
Alt rs111033815(A;A)
Reference rs111033815(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.34649536C>A
CLNSRC ARUP GALT
CLNACC RCV000022267.1,