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rs368166217

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs368166217(C;T)
Make rs368166217(T;T)
ReferenceGRCh38 38.1/141
Chromosome9
Position34648846
GeneGALT
is asnp
is mentioned by
dbSNPrs368166217
ebirs368166217
HLIrs368166217
Exacrs368166217
Varsomers368166217
Maprs368166217
PheGenIrs368166217
hapmaprs368166217
1000 genomesrs368166217
hgdprs368166217
ensemblrs368166217
gopubmedrs368166217
geneviewrs368166217
scholarrs368166217
googlers368166217
pharmgkbrs368166217
gwascentralrs368166217
openSNPrs368166217
23andMers368166217
23andMe allrs368166217
SNP Nexus

SNPshotrs368166217
SNPdbers368166217
MSV3drs368166217
GWAS Ctlgrs368166217
Max Magnitude0
ClinVar
Risk rs368166217(T;T)
Alt rs368166217(T;T)
Reference rs368166217(C;C)
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.34648843C>T
CLNSRC HGMD
CLNACC RCV000078235.4,