Have questions? Visit https://www.reddit.com/r/SNPedia

rs111033659

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs111033659(-;G)
Make rs111033659(G;G)
ReferenceGRCh38 38.1/141
Chromosome9
Position34647226
GeneGALT
is asnp
is mentioned by
dbSNPrs111033659
dbSNP (classic)rs111033659
ClinGenrs111033659
ebirs111033659
HLIrs111033659
Exacrs111033659
Gnomadrs111033659
Varsomers111033659
LitVarrs111033659
Maprs111033659
PheGenIrs111033659
Biobankrs111033659
1000 genomesrs111033659
hgdprs111033659
ensemblrs111033659
geneviewrs111033659
scholarrs111033659
googlers111033659
pharmgkbrs111033659
gwascentralrs111033659
openSNPrs111033659
23andMers111033659
SNPshotrs111033659
SNPdbers111033659
MSV3drs111033659
GWAS Ctlgrs111033659
Max Magnitude0
ClinVar
Risk rs111033659(G;G)
Alt rs111033659(G;G)
Reference Rs111033659(-;-)
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.34647223_34647224insG
CLNSRC ClinVar
CLNACC RCV000022069.1,