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rs111033792

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs111033792(A;A)
Make rs111033792(A;C)
ReferenceGRCh38 38.1/141
Chromosome9
Position34649462
GeneGALT
is asnp
is mentioned by
dbSNPrs111033792
ebirs111033792
HLIrs111033792
Exacrs111033792
Varsomers111033792
Maprs111033792
PheGenIrs111033792
hapmaprs111033792
1000 genomesrs111033792
hgdprs111033792
ensemblrs111033792
gopubmedrs111033792
geneviewrs111033792
scholarrs111033792
googlers111033792
pharmgkbrs111033792
gwascentralrs111033792
openSNPrs111033792
23andMers111033792
23andMe allrs111033792
SNP Nexus

SNPshotrs111033792
SNPdbers111033792
MSV3drs111033792
GWAS Ctlgrs111033792
Max Magnitude0
OMIM606999
Desc
Variant0009
Relatedalso
ClinVar
Risk rs111033792(A,T;A,T)
Alt rs111033792(A,T;A,T)
Reference rs111033792(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.34649459C>A; NC_000009.11:g.34649459C>T
CLNSRC ARUP GALT OMIM Allelic Variant
CLNACC RCV000003801.1, RCV000022242.1,