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rs111033648

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs111033648(A;A)
Make rs111033648(A;G)
ReferenceGRCh38 38.1/141
Chromosome9
Position34647158
GeneGALT
is asnp
is mentioned by
dbSNPrs111033648
ebirs111033648
HLIrs111033648
Exacrs111033648
Varsomers111033648
Maprs111033648
PheGenIrs111033648
hapmaprs111033648
1000 genomesrs111033648
hgdprs111033648
ensemblrs111033648
gopubmedrs111033648
geneviewrs111033648
scholarrs111033648
googlers111033648
pharmgkbrs111033648
gwascentralrs111033648
openSNPrs111033648
23andMers111033648
23andMe allrs111033648
SNP Nexus

SNPshotrs111033648
SNPdbers111033648
MSV3drs111033648
GWAS Ctlgrs111033648
Max Magnitude0
ClinVar
Risk rs111033648(A,T;A,T)
Alt rs111033648(A,T;A,T)
Reference rs111033648(G;G)
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.34647155G>A; NC_000009.11:g.34647155G>T
CLNSRC ARUP GALT
CLNACC RCV000022061.1, RCV000022060.1,