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rs193922248

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs193922248(A;T)
Make rs193922248(T;T)
ReferenceGRCh38 38.1/141
Chromosome9
Position34647839
GeneGALT
is asnp
is mentioned by
dbSNPrs193922248
ebirs193922248
HLIrs193922248
Exacrs193922248
Varsomers193922248
Maprs193922248
PheGenIrs193922248
hapmaprs193922248
1000 genomesrs193922248
hgdprs193922248
ensemblrs193922248
gopubmedrs193922248
geneviewrs193922248
scholarrs193922248
googlers193922248
pharmgkbrs193922248
gwascentralrs193922248
openSNPrs193922248
23andMers193922248
23andMe allrs193922248
SNP Nexus

SNPshotrs193922248
SNPdbers193922248
MSV3drs193922248
GWAS Ctlgrs193922248
Max Magnitude0
ClinVar
Risk rs193922248(T;T)
Alt rs193922248(T;T)
Reference rs193922248(A;A)
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.34647836A>T
CLNSRC ClinVar LabCorp
CLNACC RCV000029808.1,