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rs121908205

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121908205(C;T)
Make rs121908205(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome11
Position6617057
GeneTPP1
is asnp
is mentioned by
dbSNPrs121908205
ebirs121908205
HLIrs121908205
Exacrs121908205
Varsomers121908205
Maprs121908205
PheGenIrs121908205
hapmaprs121908205
1000 genomesrs121908205
hgdprs121908205
ensemblrs121908205
gopubmedrs121908205
geneviewrs121908205
scholarrs121908205
googlers121908205
pharmgkbrs121908205
gwascentralrs121908205
openSNPrs121908205
23andMers121908205
23andMe allrs121908205
SNP Nexus

SNPshotrs121908205
SNPdbers121908205
MSV3drs121908205
GWAS Ctlgrs121908205
Max Magnitude0
ClinVar
Risk rs121908205(T;T)
Alt rs121908205(T;T)
Reference rs121908205(C;C)
Significance Probable-Pathogenic
Disease Ceroid lipofuscinosis neuronal 2
Variation info
Gene TPP1
CLNDBN Ceroid lipofuscinosis neuronal 2
Reversed 1
HGVS NC_000011.9:g.6638288G>A
CLNSRC UniProtKB (variants)
CLNACC RCV000059629.2,