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

rs111033676

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs111033676(-;A)
Make rs111033676(A;A)
ReferenceGRCh38 38.1/141
Chromosome9
Position34647661
GeneGALT
is asnp
is mentioned by
dbSNPrs111033676
dbSNP (classic)rs111033676
ClinGenrs111033676
ebirs111033676
HLIrs111033676
Exacrs111033676
Gnomadrs111033676
Varsomers111033676
LitVarrs111033676
Maprs111033676
PheGenIrs111033676
Biobankrs111033676
1000 genomesrs111033676
hgdprs111033676
ensemblrs111033676
geneviewrs111033676
scholarrs111033676
googlers111033676
pharmgkbrs111033676
gwascentralrs111033676
openSNPrs111033676
23andMers111033676
SNPshotrs111033676
SNPdbers111033676
MSV3drs111033676
GWAS Ctlgrs111033676
Merged fromRs606231375
Max Magnitude0
ClinVar
Risk rs111033676(A;A)
Alt rs111033676(A;A)
Reference Rs111033676(-;-)
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.34647659dupA
CLNSRC ClinVar
CLNACC RCV000022087.1,