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rs111033640

From SNPedia

Orientationplus
Geno Mag Summary
(-;GTCA) 3 carrier of a Duarte galactosemia allele
(CAGT;CAGT) 0 common in clinvar
Make rs111033640(-;-)
Make rs111033640(GTCA;GTCA)
ReferenceGRCh38.p2 38.2/144
Chromosome9
Position34646586
GeneGALT
is asnp
is mentioned by
dbSNPrs111033640
ebirs111033640
HLIrs111033640
Exacrs111033640
Varsomers111033640
Maprs111033640
PheGenIrs111033640
hapmaprs111033640
1000 genomesrs111033640
hgdprs111033640
ensemblrs111033640
gopubmedrs111033640
geneviewrs111033640
scholarrs111033640
googlers111033640
pharmgkbrs111033640
gwascentralrs111033640
openSNPrs111033640
23andMers111033640
23andMe allrs111033640
SNP Nexus

SNPshotrs111033640
SNPdbers111033640
MSV3drs111033640
GWAS Ctlgrs111033640
Max Magnitude3
ClinVar
Risk rs111033640(;)
Alt rs111033640(;)
Reference rs111033640(CAGT;CAGT)
Significance Other
Disease Classical galactosemia Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase not provided
Variation info
Gene GALT
CLNDBN Classical galactosemia, homozygous Duarte-type Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase not provided
Reversed 0
HGVS NC_000009.11:g.34646583_34646586delGTCA
CLNSRC OMIM Allelic Variant
CLNACC RCV000003809.3, RCV000022037.3, RCV000128642.2, RCV000185922.2,