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rs111033845

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs111033845(C;T)
Make rs111033845(T;T)
ReferenceGRCh38 38.1/141
Chromosome9
Position34648844
GeneGALT
is asnp
is mentioned by
dbSNPrs111033845
ebirs111033845
HLIrs111033845
Exacrs111033845
Varsomers111033845
Maprs111033845
PheGenIrs111033845
hapmaprs111033845
1000 genomesrs111033845
hgdprs111033845
ensemblrs111033845
gopubmedrs111033845
geneviewrs111033845
scholarrs111033845
googlers111033845
pharmgkbrs111033845
gwascentralrs111033845
openSNPrs111033845
23andMers111033845
23andMe allrs111033845
SNP Nexus

SNPshotrs111033845
SNPdbers111033845
MSV3drs111033845
GWAS Ctlgrs111033845
Max Magnitude0
ClinVar
Risk rs111033845(T;T)
Alt rs111033845(T;T)
Reference rs111033845(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.34648841C>T
CLNSRC ARUP GALT
CLNACC RCV000022199.1,