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rs137852702

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs137852702(A;A)
Make rs137852702(A;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position40092498
GenePPT1
is asnp
is mentioned by
dbSNPrs137852702
ebirs137852702
HLIrs137852702
Exacrs137852702
Varsomers137852702
Maprs137852702
PheGenIrs137852702
hapmaprs137852702
1000 genomesrs137852702
hgdprs137852702
ensemblrs137852702
gopubmedrs137852702
geneviewrs137852702
scholarrs137852702
googlers137852702
pharmgkbrs137852702
gwascentralrs137852702
openSNPrs137852702
23andMers137852702
23andMe allrs137852702
SNP Nexus

SNPshotrs137852702
SNPdbers137852702
MSV3drs137852702
GWAS Ctlgrs137852702
Max Magnitude0
OMIM600722
Desc
Variant0010
Relatedalso
ClinVar
Risk rs137852702(A;A)
Alt rs137852702(A;A)
Reference rs137852702(G;G)
Significance Pathogenic
Disease Ceroid lipofuscinosis neuronal 1
Variation info
Gene PPT1
CLNDBN Ceroid lipofuscinosis neuronal 1
Reversed 1
HGVS NC_000001.10:g.40558170C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000009459.3,