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rs137852696

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;C) 3 Neuronal Ceroid Lipofuscinosis carrier
(C;C) 5 Neuronal Ceroid Lipofuscinosis
ReferenceGRCh38 38.1/141
Chromosome1
Position40092409
GenePPT1
is asnp
is mentioned by
dbSNPrs137852696
ebirs137852696
HLIrs137852696
Exacrs137852696
Varsomers137852696
Maprs137852696
PheGenIrs137852696
hapmaprs137852696
1000 genomesrs137852696
hgdprs137852696
ensemblrs137852696
gopubmedrs137852696
geneviewrs137852696
scholarrs137852696
googlers137852696
pharmgkbrs137852696
gwascentralrs137852696
openSNPrs137852696
23andMers137852696
23andMe allrs137852696
SNP Nexus

SNPshotrs137852696
SNPdbers137852696
MSV3drs137852696
GWAS Ctlgrs137852696
Max Magnitude5
Neuronal ceroid lipofuscinosis (PPT1-related)
OMIM600722
Desc
Variant0002
Relatedalso
ClinVar
Risk rs137852696(C;C)
Alt rs137852696(C;C)
Reference rs137852696(A;A)
Significance Pathogenic
Disease Ceroid lipofuscinosis neuronal 1 not provided
Variation info
Gene PPT1
CLNDBN Ceroid lipofuscinosis neuronal 1 not provided
Reversed 1
HGVS NC_000001.10:g.40558081T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000009451.2, RCV000188709.1,