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rs111033808

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs111033808(A;A)
Make rs111033808(A;G)
ReferenceGRCh38 38.1/141
Chromosome9
Position34649503
GeneGALT
is asnp
is mentioned by
dbSNPrs111033808
dbSNP (classic)rs111033808
ClinGenrs111033808
ebirs111033808
HLIrs111033808
Exacrs111033808
Gnomadrs111033808
Varsomers111033808
LitVarrs111033808
Maprs111033808
PheGenIrs111033808
Biobankrs111033808
1000 genomesrs111033808
hgdprs111033808
ensemblrs111033808
geneviewrs111033808
scholarrs111033808
googlers111033808
pharmgkbrs111033808
gwascentralrs111033808
openSNPrs111033808
23andMers111033808
SNPshotrs111033808
SNPdbers111033808
MSV3drs111033808
GWAS Ctlgrs111033808
Max Magnitude0
ClinVar
Risk rs111033808(A;A) rs111033808(T;T)
Alt rs111033808(A;A) rs111033808(T;T)
Reference Rs111033808(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.34649500G>A; NC_000009.11:g.34649500G>T
CLNSRC UniProtKB (protein)
CLNACC RCV000022258.1, RCV000022259.1,