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rs367543270

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(CTA;CTA) 0 common in clinvar
Make rs367543270(CTA;TAG)
Make rs367543270(TAG;TAG)
ReferenceGRCh38 38.1/141
Chromosome9
Position34648864
GeneGALT
is asnp
is mentioned by
dbSNPrs367543270
ebirs367543270
HLIrs367543270
Exacrs367543270
Varsomers367543270
Maprs367543270
PheGenIrs367543270
hapmaprs367543270
1000 genomesrs367543270
hgdprs367543270
ensemblrs367543270
gopubmedrs367543270
geneviewrs367543270
scholarrs367543270
googlers367543270
pharmgkbrs367543270
gwascentralrs367543270
openSNPrs367543270
23andMers367543270
23andMe allrs367543270
SNP Nexus

SNPshotrs367543270
SNPdbers367543270
MSV3drs367543270
GWAS Ctlgrs367543270
Max Magnitude0
ClinVar
Risk rs367543270(TAG;TAG)
Alt rs367543270(TAG;TAG)
Reference rs367543270(CTA;CTA)
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.34648861_34648863delCTAinsTAG
CLNSRC HGMD
CLNACC RCV000022205.4,


[PMID 11261429] The molecular biology of galactosemia.