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rs1057517240

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs1057517240(-;T)
Make rs1057517240(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome9
Position34648835
GeneGALT
is asnp
is mentioned by
dbSNPrs1057517240
dbSNP (old)rs1057517240
ClinGenrs1057517240
ebirs1057517240
HLIrs1057517240
Exacrs1057517240
Gnomadrs1057517240
Varsomers1057517240
Maprs1057517240
PheGenIrs1057517240
Biobankrs1057517240
1000 genomesrs1057517240
hgdprs1057517240
ensemblrs1057517240
gopubmedrs1057517240
geneviewrs1057517240
scholarrs1057517240
googlers1057517240
pharmgkbrs1057517240
gwascentralrs1057517240
openSNPrs1057517240
23andMers1057517240
23andMe allrs1057517240
SNPshotrs1057517240
SNPdbers1057517240
MSV3drs1057517240
GWAS Ctlgrs1057517240
Max Magnitude0
ClinVar
Risk rs1057517240(T;T)
Alt rs1057517240(T;T)
Reference Rs1057517240(-;-)
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.34648832dupT
CLNSRC
CLNACC RCV000410683.1,