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rs1085307087

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Chromosome1
Position40097238
GenePPT1
is asnp
is mentioned by
dbSNPrs1085307087
dbSNP (old)rs1085307087
ClinGenrs1085307087
ebirs1085307087
HLIrs1085307087
Exacrs1085307087
Gnomadrs1085307087
Varsomers1085307087
LitVarrs1085307087
Maprs1085307087
PheGenIrs1085307087
Biobankrs1085307087
1000 genomesrs1085307087
hgdprs1085307087
ensemblrs1085307087
gopubmedrs1085307087
geneviewrs1085307087
scholarrs1085307087
googlers1085307087
pharmgkbrs1085307087
gwascentralrs1085307087
openSNPrs1085307087
23andMers1085307087
23andMe allrs1085307087
SNPshotrs1085307087
SNPdbers1085307087
MSV3drs1085307087
GWAS Ctlgrs1085307087
Max Magnitude0
ClinVar
Risk rs1085307087(G;G)
Alt rs1085307087(G;G)
Reference Rs1085307087(A;A)
Significance Probable-Pathogenic
Disease Ceroid lipofuscinosis neuronal 1
Variation info
Gene PPT1
CLNDBN Ceroid lipofuscinosis neuronal 1
Reversed 1
HGVS NC_000001.10:g.40562910T>C
CLNSRC
CLNACC RCV000490479.1,