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rs137852699

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs137852699(A;A)
Make rs137852699(A;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position40097210
GenePPT1
is asnp
is mentioned by
dbSNPrs137852699
ebirs137852699
HLIrs137852699
Exacrs137852699
Varsomers137852699
Maprs137852699
PheGenIrs137852699
hapmaprs137852699
1000 genomesrs137852699
hgdprs137852699
ensemblrs137852699
gopubmedrs137852699
geneviewrs137852699
scholarrs137852699
googlers137852699
pharmgkbrs137852699
gwascentralrs137852699
openSNPrs137852699
23andMers137852699
23andMe allrs137852699
SNP Nexus

SNPshotrs137852699
SNPdbers137852699
MSV3drs137852699
GWAS Ctlgrs137852699
Max Magnitude0
OMIM600722
Desc
Variant0005
Relatedalso
ClinVar
Risk rs137852699(A;A)
Alt rs137852699(A;A)
Reference rs137852699(T;T)
Significance Other
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.40562882A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000009454.4, RCV000188716.2,