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rs111033678

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs111033678(A;C)
Make rs111033678(C;C)
ReferenceGRCh38 38.1/141
Chromosome9
Position34647669
GeneGALT
is asnp
is mentioned by
dbSNPrs111033678
ebirs111033678
HLIrs111033678
Exacrs111033678
Varsomers111033678
Maprs111033678
PheGenIrs111033678
hapmaprs111033678
1000 genomesrs111033678
hgdprs111033678
ensemblrs111033678
gopubmedrs111033678
geneviewrs111033678
scholarrs111033678
googlers111033678
pharmgkbrs111033678
gwascentralrs111033678
openSNPrs111033678
23andMers111033678
23andMe allrs111033678
SNP Nexus

SNPshotrs111033678
SNPdbers111033678
MSV3drs111033678
GWAS Ctlgrs111033678
Max Magnitude0
ClinVar
Risk rs111033678(C,T;C,T)
Alt rs111033678(C,T;C,T)
Reference rs111033678(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.34647666A>T
CLNSRC ARUP GALT
CLNACC RCV000022090.1,


[PMID 11261429] The molecular biology of galactosemia.