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rs121908200

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121908200(C;C)
Make rs121908200(C;G)
ReferenceGRCh38.p2 38.2/146
Chromosome11
Position6615442
GeneTPP1
is asnp
is mentioned by
dbSNPrs121908200
ebirs121908200
HLIrs121908200
Exacrs121908200
Varsomers121908200
Maprs121908200
PheGenIrs121908200
hapmaprs121908200
1000 genomesrs121908200
hgdprs121908200
ensemblrs121908200
gopubmedrs121908200
geneviewrs121908200
scholarrs121908200
googlers121908200
pharmgkbrs121908200
gwascentralrs121908200
openSNPrs121908200
23andMers121908200
23andMe allrs121908200
SNP Nexus

SNPshotrs121908200
SNPdbers121908200
MSV3drs121908200
GWAS Ctlgrs121908200
Max Magnitude0
ClinVar
Risk rs121908200(C;C)
Alt rs121908200(C;C)
Reference rs121908200(G;G)
Significance Pathogenic
Disease Ceroid lipofuscinosis neuronal 2 not provided Inborn genetic diseases
Variation info
Gene TPP1
CLNDBN Ceroid lipofuscinosis neuronal 2 not provided Inborn genetic diseases
Reversed 1
HGVS NC_000011.9:g.6636673C>G
CLNSRC UniProtKB (variants)
CLNACC RCV000059620.1, RCV000189782.2, RCV000210643.1,