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rs2070075

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in complete genomics
(C;T) 2
(T;T) 3
ReferenceGRCh38 38.1/141
Chromosome9
Position34648421
GeneGALT
is asnp
is mentioned by
dbSNPrs2070075
ebirs2070075
HLIrs2070075
Exacrs2070075
Varsomers2070075
Maprs2070075
PheGenIrs2070075
hapmaprs2070075
1000 genomesrs2070075
hgdprs2070075
ensemblrs2070075
gopubmedrs2070075
geneviewrs2070075
scholarrs2070075
googlers2070075
pharmgkbrs2070075
gwascentralrs2070075
openSNPrs2070075
23andMers2070075
23andMe allrs2070075
SNP Nexus

SNPshotrs2070075
SNPdbers2070075
MSV3drs2070075
GWAS Ctlgrs2070075
GMAF0.01607
Max Magnitude3
? (C;C) (C;T) (T;T) 28
OMIM606999
DescLOS ANGELES VARIANT
Variant0012
Relatedalso


ClinVar
Risk rs2070075(G,T;G,T)
Alt rs2070075(G,T;G,T)
Reference rs2070075(C;C)
Significance Pathogenic
Disease Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase GALT POLYMORPHISM (LOS ANGELES not provided
Variation info
Gene GALT
CLNDBN Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase GALT POLYMORPHISM (LOS ANGELES, D1) not provided
Reversed 0
HGVS NC_000009.11:g.34648418C>G; NC_000009.11:g.34648418C>T
CLNSRC ARUP GALT OMIM Allelic Variant
CLNACC RCV000022175.1, RCV000003804.2, RCV000032587.1, RCV000078233.5,



[PMID 10408771] Classical galactosemia and mutations at the galactose-1-phosphate uridyl transferase (GALT) gene.


[PMID 10424825OA-icon.png] Presence of a deletion in the 5' upstream region of the GALT gene in Duarte (D2) alleles.