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rs111033796

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs111033796(G;G)
Make rs111033796(G;T)
ReferenceGRCh38 38.1/141
Chromosome9
Position34649472
GeneGALT
is asnp
is mentioned by
dbSNPrs111033796
ebirs111033796
HLIrs111033796
Exacrs111033796
Varsomers111033796
Maprs111033796
PheGenIrs111033796
hapmaprs111033796
1000 genomesrs111033796
hgdprs111033796
ensemblrs111033796
gopubmedrs111033796
geneviewrs111033796
scholarrs111033796
googlers111033796
pharmgkbrs111033796
gwascentralrs111033796
openSNPrs111033796
23andMers111033796
23andMe allrs111033796
SNP Nexus

SNPshotrs111033796
SNPdbers111033796
MSV3drs111033796
GWAS Ctlgrs111033796
Max Magnitude0
ClinVar
Risk rs111033796(C,G;C,G)
Alt rs111033796(C,G;C,G)
Reference rs111033796(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.34649469T>C; NC_000009.11:g.34649469T>G
CLNSRC ARUP GALT
CLNACC RCV000022246.1, RCV000022245.1,