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rs111033647

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs111033647(G;T)
Make rs111033647(T;T)
ReferenceGRCh38 38.1/141
Chromosome9
Position34647136
GeneGALT
is asnp
is mentioned by
dbSNPrs111033647
ebirs111033647
HLIrs111033647
Exacrs111033647
Varsomers111033647
Maprs111033647
PheGenIrs111033647
hapmaprs111033647
1000 genomesrs111033647
hgdprs111033647
ensemblrs111033647
gopubmedrs111033647
geneviewrs111033647
scholarrs111033647
googlers111033647
pharmgkbrs111033647
gwascentralrs111033647
openSNPrs111033647
23andMers111033647
23andMe allrs111033647
SNP Nexus

SNPshotrs111033647
SNPdbers111033647
MSV3drs111033647
GWAS Ctlgrs111033647
Max Magnitude0
OMIM606999
Desc
Variant0003
Relatedalso
ClinVar
Risk rs111033647(A,T;A,T)
Alt rs111033647(A,T;A,T)
Reference rs111033647(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.34647133G>A; NC_000009.11:g.34647133G>T
CLNSRC ARUP GALT OMIM Allelic Variant
CLNACC RCV000003795.1, RCV000022056.1,