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rs111033670

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs111033670(A;A)
Make rs111033670(A;G)
ReferenceGRCh38 38.1/141
Chromosome9
Position34647531
GeneGALT
is asnp
is mentioned by
dbSNPrs111033670
dbSNP (classic)rs111033670
ClinGenrs111033670
ebirs111033670
HLIrs111033670
Exacrs111033670
Gnomadrs111033670
Varsomers111033670
LitVarrs111033670
Maprs111033670
PheGenIrs111033670
Biobankrs111033670
1000 genomesrs111033670
hgdprs111033670
ensemblrs111033670
geneviewrs111033670
scholarrs111033670
googlers111033670
pharmgkbrs111033670
gwascentralrs111033670
openSNPrs111033670
23andMers111033670
SNPshotrs111033670
SNPdbers111033670
MSV3drs111033670
GWAS Ctlgrs111033670
Max Magnitude0
ClinVar
Risk rs111033670(A;A) rs111033670(C;C)
Alt rs111033670(A;A) rs111033670(C;C)
Reference Rs111033670(G;G)
Significance Pathogenic
Disease Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase not provided
Variation info
Gene GALT
CLNDBN Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase not provided
Reversed 0
HGVS NC_000009.11:g.34647528G>A; NC_000009.11:g.34647528G>C
CLNSRC UniProtKB (protein) HGMD
CLNACC RCV000022079.2, RCV000022080.2, RCV000078219.4,