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rs193922250

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs193922250(G;T)
Make rs193922250(T;T)
ReferenceGRCh38 38.1/141
Chromosome9
Position34648457
GeneGALT
is asnp
is mentioned by
dbSNPrs193922250
ebirs193922250
HLIrs193922250
Exacrs193922250
Varsomers193922250
Maprs193922250
PheGenIrs193922250
hapmaprs193922250
1000 genomesrs193922250
hgdprs193922250
ensemblrs193922250
gopubmedrs193922250
geneviewrs193922250
scholarrs193922250
googlers193922250
pharmgkbrs193922250
gwascentralrs193922250
openSNPrs193922250
23andMers193922250
23andMe allrs193922250
SNP Nexus

SNPshotrs193922250
SNPdbers193922250
MSV3drs193922250
GWAS Ctlgrs193922250
Max Magnitude0
ClinVar
Risk rs193922250(T;T)
Alt rs193922250(T;T)
Reference rs193922250(G;G)
Significance Probable-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.34648454G>T
CLNSRC ClinVar
CLNACC RCV000029818.1,