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rs193922247

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs193922247(A;C)
Make rs193922247(C;C)
ReferenceGRCh38 38.1/141
Chromosome9
Position34647209
GeneGALT
is asnp
is mentioned by
dbSNPrs193922247
ebirs193922247
HLIrs193922247
Exacrs193922247
Varsomers193922247
Maprs193922247
PheGenIrs193922247
hapmaprs193922247
1000 genomesrs193922247
hgdprs193922247
ensemblrs193922247
gopubmedrs193922247
geneviewrs193922247
scholarrs193922247
googlers193922247
pharmgkbrs193922247
gwascentralrs193922247
openSNPrs193922247
23andMers193922247
23andMe allrs193922247
SNP Nexus

SNPshotrs193922247
SNPdbers193922247
MSV3drs193922247
GWAS Ctlgrs193922247
Max Magnitude0
ClinVar
Risk rs193922247(C;C)
Alt rs193922247(C;C)
Reference rs193922247(A;A)
Significance Probable-Pathogenic
Disease Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase not provided
Variation info
Gene GALT
CLNDBN Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase not provided
Reversed 0
HGVS NC_000009.11:g.34647206A>C
CLNSRC ClinVar LabCorp
CLNACC RCV000029806.2, RCV000185911.1,