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rs111033762

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(GCATGTGCGGCGG;GCATGTGCGGCGG) 0 common in clinvar
Make rs111033762(-;-)
Make rs111033762(-;ATGTGCGGCGG)
Make rs111033762(ATGTGCGGCGG;ATGTGCGGCGG)
ReferenceGRCh38 38.1/142
Chromosome9
Position34648852
GeneGALT
is asnp
is mentioned by
dbSNPrs111033762
dbSNP (old)rs111033762
ClinGenrs111033762
ebirs111033762
HLIrs111033762
Exacrs111033762
Gnomadrs111033762
Varsomers111033762
Maprs111033762
PheGenIrs111033762
Biobankrs111033762
1000 genomesrs111033762
hgdprs111033762
ensemblrs111033762
gopubmedrs111033762
geneviewrs111033762
scholarrs111033762
googlers111033762
pharmgkbrs111033762
gwascentralrs111033762
openSNPrs111033762
23andMers111033762
23andMe allrs111033762
SNP Nexus

SNPshotrs111033762
SNPdbers111033762
MSV3drs111033762
GWAS Ctlgrs111033762
Max Magnitude0
ClinVar
Risk rs111033762(G;G) rs111033762(GATGTGCGGCGG;GATGTGCGGCGG)
Alt rs111033762(G;G) rs111033762(GATGTGCGGCGG;GATGTGCGGCGG)
Reference Rs111033762(GCATGTGCGGCGG;GCATGTGCGGCGG)
Significance Pathogenic
Disease Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
Variation info
Gene
CLNDBN Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
Reversed 0
HGVS NC_000009.11:g.34648850_34648861delATGTGCGGCGGC
CLNSRC ClinVar
CLNACC RCV000022203.1,