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rs1057517415

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1057517415(A;G)
Make rs1057517415(G;G)
ReferenceGRCh38.p7 38.3/150
Chromosome9
Position34647087
GeneGALT
is asnp
is mentioned by
dbSNPrs1057517415
dbSNP (classic)rs1057517415
ClinGenrs1057517415
ebirs1057517415
HLIrs1057517415
Exacrs1057517415
Gnomadrs1057517415
Varsomers1057517415
LitVarrs1057517415
Maprs1057517415
PheGenIrs1057517415
Biobankrs1057517415
1000 genomesrs1057517415
hgdprs1057517415
ensemblrs1057517415
geneviewrs1057517415
scholarrs1057517415
googlers1057517415
pharmgkbrs1057517415
gwascentralrs1057517415
openSNPrs1057517415
23andMers1057517415
23andMe allrs1057517415
SNPshotrs1057517415
SNPdbers1057517415
MSV3drs1057517415
GWAS Ctlgrs1057517415
Max Magnitude0
ClinVar
Risk rs1057517415(G;G)
Alt rs1057517415(G;G)
Reference Rs1057517415(A;A)
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.34647084A>G
CLNSRC
CLNACC RCV000409485.1,