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rs1057517401

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057517401(A;A)
Make rs1057517401(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome1
Position40092044
GenePPT1
is asnp
is mentioned by
dbSNPrs1057517401
dbSNP (old)rs1057517401
ClinGenrs1057517401
ebirs1057517401
HLIrs1057517401
Exacrs1057517401
Gnomadrs1057517401
Varsomers1057517401
Maprs1057517401
PheGenIrs1057517401
Biobankrs1057517401
1000 genomesrs1057517401
hgdprs1057517401
ensemblrs1057517401
gopubmedrs1057517401
geneviewrs1057517401
scholarrs1057517401
googlers1057517401
pharmgkbrs1057517401
gwascentralrs1057517401
openSNPrs1057517401
23andMers1057517401
23andMe allrs1057517401
SNPshotrs1057517401
SNPdbers1057517401
MSV3drs1057517401
GWAS Ctlgrs1057517401
Max Magnitude0
ClinVar
Risk rs1057517401(A;A)
Alt rs1057517401(A;A)
Reference Rs1057517401(G;G)
Significance Probable-Pathogenic
Disease Ceroid lipofuscinosis neuronal 1
Variation info
Gene PPT1
CLNDBN Ceroid lipofuscinosis neuronal 1
Reversed 1
HGVS NC_000001.10:g.40557716C>T
CLNSRC
CLNACC RCV000410545.1,