rs121908205
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs121908205(C;T) |
Make rs121908205(T;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 11 |
Position | 6617057 |
Gene | TPP1 |
is a | snp |
is | mentioned by |
dbSNP | rs121908205 |
dbSNP (classic) | rs121908205 |
ClinGen | rs121908205 |
ebi | rs121908205 |
HLI | rs121908205 |
Exac | rs121908205 |
Gnomad | rs121908205 |
Varsome | rs121908205 |
LitVar | rs121908205 |
Map | rs121908205 |
PheGenI | rs121908205 |
Biobank | rs121908205 |
1000 genomes | rs121908205 |
hgdp | rs121908205 |
ensembl | rs121908205 |
geneview | rs121908205 |
scholar | rs121908205 |
rs121908205 | |
pharmgkb | rs121908205 |
gwascentral | rs121908205 |
openSNP | rs121908205 |
23andMe | rs121908205 |
SNPshot | rs121908205 |
SNPdbe | rs121908205 |
MSV3d | rs121908205 |
GWAS Ctlg | rs121908205 |
Max Magnitude | 0 |
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 (protein) UniProtKB (variants) |
CLNACC | RCV000059629.2, |