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rs1057516720

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1057516720(A;A)
Make rs1057516720(A;T)
ReferenceGRCh38.p7 38.3/150
Chromosome9
Position34648396
GeneGALT
is asnp
is mentioned by
dbSNPrs1057516720
dbSNP (classic)rs1057516720
ClinGenrs1057516720
ebirs1057516720
HLIrs1057516720
Exacrs1057516720
Gnomadrs1057516720
Varsomers1057516720
LitVarrs1057516720
Maprs1057516720
PheGenIrs1057516720
Biobankrs1057516720
1000 genomesrs1057516720
hgdprs1057516720
ensemblrs1057516720
geneviewrs1057516720
scholarrs1057516720
googlers1057516720
pharmgkbrs1057516720
gwascentralrs1057516720
openSNPrs1057516720
23andMers1057516720
23andMe allrs1057516720
SNPshotrs1057516720
SNPdbers1057516720
MSV3drs1057516720
GWAS Ctlgrs1057516720
Max Magnitude0
ClinVar
Risk rs1057516720(A;A)
Alt rs1057516720(A;A)
Reference Rs1057516720(T;T)
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.34648393T>A
CLNSRC
CLNACC RCV000409965.1,