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rs1057516883

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057516883(-;-)
Make rs1057516883(-;C)
ReferenceGRCh38.p7 38.3/150
Chromosome9
Position34648439
GeneGALT
is asnp
is mentioned by
dbSNPrs1057516883
dbSNP (old)rs1057516883
ClinGenrs1057516883
ebirs1057516883
HLIrs1057516883
Exacrs1057516883
Gnomadrs1057516883
Varsomers1057516883
Maprs1057516883
PheGenIrs1057516883
Biobankrs1057516883
1000 genomesrs1057516883
hgdprs1057516883
ensemblrs1057516883
gopubmedrs1057516883
geneviewrs1057516883
scholarrs1057516883
googlers1057516883
pharmgkbrs1057516883
gwascentralrs1057516883
openSNPrs1057516883
23andMers1057516883
23andMe allrs1057516883
SNPshotrs1057516883
SNPdbers1057516883
MSV3drs1057516883
GWAS Ctlgrs1057516883
Max Magnitude0
ClinVar
Risk rs1057516883(-;-)
Alt rs1057516883(-;-)
Reference Rs1057516883(C;C)
Significance Probable-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.34648436delC
CLNSRC
CLNACC RCV000410093.1,