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rs367543255

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs367543255(A;A)
Make rs367543255(A;G)
ReferenceGRCh38 38.1/141
Chromosome9
Position34647843
GeneGALT
is asnp
is mentioned by
dbSNPrs367543255
ebirs367543255
HLIrs367543255
Exacrs367543255
Varsomers367543255
Maprs367543255
PheGenIrs367543255
hapmaprs367543255
1000 genomesrs367543255
hgdprs367543255
ensemblrs367543255
gopubmedrs367543255
geneviewrs367543255
scholarrs367543255
googlers367543255
pharmgkbrs367543255
gwascentralrs367543255
openSNPrs367543255
23andMers367543255
23andMe allrs367543255
SNP Nexus

SNPshotrs367543255
SNPdbers367543255
MSV3drs367543255
GWAS Ctlgrs367543255
Max Magnitude0
ClinVar
Risk rs367543255(A;A)
Alt rs367543255(A;A)
Reference rs367543255(G;G)
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.34647840G>A
CLNSRC ARUP GALT
CLNACC RCV000022100.1,


[PMID 11261429] The molecular biology of galactosemia.