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rs111033665

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs111033665(A;A)
Make rs111033665(A;G)
ReferenceGRCh38 38.1/141
Chromosome9
Position34647247
GeneGALT
is asnp
is mentioned by
dbSNPrs111033665
dbSNP (classic)rs111033665
ClinGenrs111033665
ebirs111033665
HLIrs111033665
Exacrs111033665
Gnomadrs111033665
Varsomers111033665
LitVarrs111033665
Maprs111033665
PheGenIrs111033665
Biobankrs111033665
1000 genomesrs111033665
hgdprs111033665
ensemblrs111033665
geneviewrs111033665
scholarrs111033665
googlers111033665
pharmgkbrs111033665
gwascentralrs111033665
openSNPrs111033665
23andMers111033665
SNPshotrs111033665
SNPdbers111033665
MSV3drs111033665
GWAS Ctlgrs111033665
Max Magnitude0
ClinVar
Risk rs111033665(A;A) rs111033665(C;C)
Alt rs111033665(A;A) rs111033665(C;C)
Reference Rs111033665(G;G)
Significance Other
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.34647244G>A
CLNSRC UniProtKB (protein)
CLNACC RCV000022071.3,