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rs137852697

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs137852697(A;G)
Make rs137852697(G;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position40092171
GenePPT1
is asnp
is mentioned by
dbSNPrs137852697
ebirs137852697
HLIrs137852697
Exacrs137852697
Varsomers137852697
Maprs137852697
PheGenIrs137852697
hapmaprs137852697
1000 genomesrs137852697
hgdprs137852697
ensemblrs137852697
gopubmedrs137852697
geneviewrs137852697
scholarrs137852697
googlers137852697
pharmgkbrs137852697
gwascentralrs137852697
openSNPrs137852697
23andMers137852697
23andMe allrs137852697
SNP Nexus

SNPshotrs137852697
SNPdbers137852697
MSV3drs137852697
GWAS Ctlgrs137852697
Max Magnitude0
OMIM600722
Desc
Variant0003
Relatedalso
ClinVar
Risk rs137852697(G;G)
Alt rs137852697(G;G)
Reference rs137852697(A;A)
Significance Pathogenic
Disease Ceroid lipofuscinosis neuronal 1
Variation info
Gene PPT1
CLNDBN Ceroid lipofuscinosis neuronal 1
Reversed 1
HGVS NC_000001.10:g.40557843T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000009452.3,