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rs1057516575

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs1057516575(-;T)
Make rs1057516575(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome1
Position40074160
GenePPT1
is asnp
is mentioned by
dbSNPrs1057516575
dbSNP (classic)rs1057516575
ClinGenrs1057516575
ebirs1057516575
HLIrs1057516575
Exacrs1057516575
Gnomadrs1057516575
Varsomers1057516575
LitVarrs1057516575
Maprs1057516575
PheGenIrs1057516575
Biobankrs1057516575
1000 genomesrs1057516575
hgdprs1057516575
ensemblrs1057516575
geneviewrs1057516575
scholarrs1057516575
googlers1057516575
pharmgkbrs1057516575
gwascentralrs1057516575
openSNPrs1057516575
23andMers1057516575
23andMe allrs1057516575
SNPshotrs1057516575
SNPdbers1057516575
MSV3drs1057516575
GWAS Ctlgrs1057516575
Max Magnitude0
ClinVar
Risk rs1057516575(T;T)
Alt rs1057516575(T;T)
Reference Rs1057516575(-;-)
Significance Probable-Pathogenic
Disease Ceroid lipofuscinosis neuronal 1
Variation info
Gene PPT1
CLNDBN Ceroid lipofuscinosis neuronal 1
Reversed 1
HGVS NC_000001.10:g.40539833dupA
CLNSRC
CLNACC RCV000409710.1,