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

rs367543262

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs367543262(A;G)
Make rs367543262(G;G)
ReferenceGRCh38 38.1/141
Chromosome9
Position34649034
GeneGALT
is asnp
is mentioned by
dbSNPrs367543262
ebirs367543262
HLIrs367543262
Exacrs367543262
Varsomers367543262
Maprs367543262
PheGenIrs367543262
hapmaprs367543262
1000 genomesrs367543262
hgdprs367543262
ensemblrs367543262
gopubmedrs367543262
geneviewrs367543262
scholarrs367543262
googlers367543262
pharmgkbrs367543262
gwascentralrs367543262
openSNPrs367543262
23andMers367543262
23andMe allrs367543262
SNP Nexus

SNPshotrs367543262
SNPdbers367543262
MSV3drs367543262
GWAS Ctlgrs367543262
Max Magnitude0
ClinVar
Risk rs367543262(G;G)
Alt rs367543262(G;G)
Reference rs367543262(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.34649031A>G
CLNSRC ClinVar
CLNACC RCV000022219.1,


[PMID 15775761] Neonatal screening, clinical features and genetic testing for galactosemia.