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rs111033663

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs111033663(C;C)
Make rs111033663(C;T)
ReferenceGRCh38 38.1/141
Chromosome9
Position34647227
GeneGALT
is asnp
is mentioned by
dbSNPrs111033663
ebirs111033663
HLIrs111033663
Exacrs111033663
Varsomers111033663
Maprs111033663
PheGenIrs111033663
hapmaprs111033663
1000 genomesrs111033663
hgdprs111033663
ensemblrs111033663
gopubmedrs111033663
geneviewrs111033663
scholarrs111033663
googlers111033663
pharmgkbrs111033663
gwascentralrs111033663
openSNPrs111033663
23andMers111033663
23andMe allrs111033663
SNP Nexus

SNPshotrs111033663
SNPdbers111033663
MSV3drs111033663
GWAS Ctlgrs111033663
Max Magnitude0
OMIM606999
Desc
Variant0007
Relatedalso
ClinVar
Risk rs111033663(C,G;C,G)
Alt rs111033663(C,G;C,G)
Reference rs111033663(T;T)
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.34647224T>C
CLNSRC ARUP GALT OMIM Allelic Variant
CLNACC RCV000003799.1,