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rs111033695

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs111033695(A;A)
Make rs111033695(A;T)
ReferenceGRCh38 38.1/141
Chromosome9
Position34647879
GeneGALT
is asnp
is mentioned by
dbSNPrs111033695
ebirs111033695
HLIrs111033695
Exacrs111033695
Varsomers111033695
Maprs111033695
PheGenIrs111033695
hapmaprs111033695
1000 genomesrs111033695
hgdprs111033695
ensemblrs111033695
gopubmedrs111033695
geneviewrs111033695
scholarrs111033695
googlers111033695
pharmgkbrs111033695
gwascentralrs111033695
openSNPrs111033695
23andMers111033695
23andMe allrs111033695
SNP Nexus

SNPshotrs111033695
SNPdbers111033695
MSV3drs111033695
GWAS Ctlgrs111033695
Max Magnitude0
OMIM606999
Desc
Variant0001
Relatedalso
ClinVar
Risk rs111033695(A,C;A,C)
Alt rs111033695(A,C;A,C)
Reference rs111033695(T;T)
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.34647876T>A; NC_000009.11:g.34647876T>C
CLNSRC ARUP GALT HGMD OMIM Allelic Variant
CLNACC RCV000003793.4, RCV000185916.2, RCV000022110.1,