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rs1057516447

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057516447(A;A)
Make rs1057516447(A;C)
ReferenceGRCh38.p7 38.3/150
Chromosome1
Position40092080
GenePPT1
is asnp
is mentioned by
dbSNPrs1057516447
dbSNP (old)rs1057516447
ClinGenrs1057516447
ebirs1057516447
HLIrs1057516447
Exacrs1057516447
Gnomadrs1057516447
Varsomers1057516447
Maprs1057516447
PheGenIrs1057516447
Biobankrs1057516447
1000 genomesrs1057516447
hgdprs1057516447
ensemblrs1057516447
gopubmedrs1057516447
geneviewrs1057516447
scholarrs1057516447
googlers1057516447
pharmgkbrs1057516447
gwascentralrs1057516447
openSNPrs1057516447
23andMers1057516447
23andMe allrs1057516447
SNPshotrs1057516447
SNPdbers1057516447
MSV3drs1057516447
GWAS Ctlgrs1057516447
Max Magnitude0
ClinVar
Risk rs1057516447(A;A)
Alt rs1057516447(A;A)
Reference Rs1057516447(C;C)
Significance Probable-Pathogenic
Disease Ceroid lipofuscinosis neuronal 1
Variation info
Gene PPT1
CLNDBN Ceroid lipofuscinosis neuronal 1
Reversed 1
HGVS NC_000001.10:g.40557752G>T
CLNSRC
CLNACC RCV000409057.1,