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rs121908195

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121908195(A;A)
Make rs121908195(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome11
Position6618776
GeneTPP1
is asnp
is mentioned by
dbSNPrs121908195
ebirs121908195
HLIrs121908195
Exacrs121908195
Varsomers121908195
Maprs121908195
PheGenIrs121908195
hapmaprs121908195
1000 genomesrs121908195
hgdprs121908195
ensemblrs121908195
gopubmedrs121908195
geneviewrs121908195
scholarrs121908195
googlers121908195
pharmgkbrs121908195
gwascentralrs121908195
openSNPrs121908195
23andMers121908195
23andMe allrs121908195
SNP Nexus

SNPshotrs121908195
SNPdbers121908195
MSV3drs121908195
GWAS Ctlgrs121908195
Max Magnitude0
ClinVar
Risk rs121908195(A;A)
Alt rs121908195(A;A)
Reference rs121908195(G;G)
Significance Pathogenic
Disease not provided Ceroid lipofuscinosis neuronal 2
Variation info
Gene TPP1
CLNDBN not provided Ceroid lipofuscinosis neuronal 2
Reversed 1
HGVS NC_000011.9:g.6640007C>G; NC_000011.9:g.6640007C>T
CLNSRC UniProtKB (variants)
CLNACC RCV000189757.2, RCV000059626.1,