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rs111033645

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs111033645(C;T)
Make rs111033645(T;T)
ReferenceGRCh38 38.1/141
Chromosome9
Position34647113
GeneGALT
is asnp
is mentioned by
dbSNPrs111033645
dbSNP (classic)rs111033645
ClinGenrs111033645
ebirs111033645
HLIrs111033645
Exacrs111033645
Gnomadrs111033645
Varsomers111033645
LitVarrs111033645
Maprs111033645
PheGenIrs111033645
Biobankrs111033645
1000 genomesrs111033645
hgdprs111033645
ensemblrs111033645
geneviewrs111033645
scholarrs111033645
googlers111033645
pharmgkbrs111033645
gwascentralrs111033645
openSNPrs111033645
23andMers111033645
SNPshotrs111033645
SNPdbers111033645
MSV3drs111033645
GWAS Ctlgrs111033645
Max Magnitude0
ClinVar
Risk rs111033645(T;T)
Alt rs111033645(T;T)
Reference Rs111033645(C;C)
Significance Pathogenic
Disease Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase not specified
Variation info
Gene GALT
CLNDBN Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase not specified
Reversed 0
HGVS NC_000009.11:g.34647110C>T
CLNSRC ARUP GALT
CLNACC RCV000022053.1, RCV000175533.1,