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rs111033656

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs111033656(A;A)
Make rs111033656(A;C)
ReferenceGRCh38 38.1/141
Chromosome9
Position34647203
GeneGALT
is asnp
is mentioned by
dbSNPrs111033656
ebirs111033656
HLIrs111033656
Exacrs111033656
Varsomers111033656
Maprs111033656
PheGenIrs111033656
hapmaprs111033656
1000 genomesrs111033656
hgdprs111033656
ensemblrs111033656
gopubmedrs111033656
geneviewrs111033656
scholarrs111033656
googlers111033656
pharmgkbrs111033656
gwascentralrs111033656
openSNPrs111033656
23andMers111033656
23andMe allrs111033656
SNP Nexus

SNPshotrs111033656
SNPdbers111033656
MSV3drs111033656
GWAS Ctlgrs111033656
Max Magnitude0
ClinVar
Risk rs111033656(A,T;A,T)
Alt rs111033656(A,T;A,T)
Reference rs111033656(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.34647200C>A; NC_000009.11:g.34647200C>T
CLNSRC ARUP GALT
CLNACC RCV000022065.1, RCV000022066.1,