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rs137852700

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 3 Neuronal Ceroid Lipofuscinosis carrier
(T;T) 5 Neuronal Ceroid Lipofuscinosis
ReferenceGRCh38 38.1/142
Chromosome1
Position40089495
GenePPT1
is asnp
is mentioned by
dbSNPrs137852700
ebirs137852700
HLIrs137852700
Exacrs137852700
Varsomers137852700
Maprs137852700
PheGenIrs137852700
hapmaprs137852700
1000 genomesrs137852700
hgdprs137852700
ensemblrs137852700
gopubmedrs137852700
geneviewrs137852700
scholarrs137852700
googlers137852700
pharmgkbrs137852700
gwascentralrs137852700
openSNPrs137852700
23andMers137852700
23andMe allrs137852700
SNP Nexus

SNPshotrs137852700
SNPdbers137852700
MSV3drs137852700
GWAS Ctlgrs137852700
Max Magnitude5
OMIM600722
Desc
Variant0006
Relatedalso
ClinVar
Risk rs137852700(G,T;G,T)
Alt rs137852700(G,T;G,T)
Reference rs137852700(C;C)
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.40555167G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000009455.6, RCV000188718.1,