Have questions? Visit https://www.reddit.com/r/SNPedia

rs367543252

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs367543252(A;G)
Make rs367543252(G;G)
ReferenceGRCh38 38.1/141
Chromosome9
Position34647547
GeneGALT
is asnp
is mentioned by
dbSNPrs367543252
ebirs367543252
HLIrs367543252
Exacrs367543252
Varsomers367543252
Maprs367543252
PheGenIrs367543252
hapmaprs367543252
1000 genomesrs367543252
hgdprs367543252
ensemblrs367543252
gopubmedrs367543252
geneviewrs367543252
scholarrs367543252
googlers367543252
pharmgkbrs367543252
gwascentralrs367543252
openSNPrs367543252
23andMers367543252
23andMe allrs367543252
SNP Nexus

SNPshotrs367543252
SNPdbers367543252
MSV3drs367543252
GWAS Ctlgrs367543252
Max Magnitude0
ClinVar
Risk rs367543252(G;G)
Alt rs367543252(G;G)
Reference rs367543252(A;A)
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.34647544A>G
CLNSRC ARUP GALT
CLNACC RCV000022083.1,