rs553522118
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs553522118(A;A) |
Make rs553522118(A;G) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 11 |
Position | 6617338 |
Gene | TPP1 |
is a | snp |
is | mentioned by |
dbSNP | rs553522118 |
dbSNP (classic) | rs553522118 |
ClinGen | rs553522118 |
ebi | rs553522118 |
HLI | rs553522118 |
Exac | rs553522118 |
Gnomad | rs553522118 |
Varsome | rs553522118 |
LitVar | rs553522118 |
Map | rs553522118 |
PheGenI | rs553522118 |
Biobank | rs553522118 |
1000 genomes | rs553522118 |
hgdp | rs553522118 |
ensembl | rs553522118 |
geneview | rs553522118 |
scholar | rs553522118 |
rs553522118 | |
pharmgkb | rs553522118 |
gwascentral | rs553522118 |
openSNP | rs553522118 |
23andMe | rs553522118 |
SNPshot | rs553522118 |
SNPdbe | rs553522118 |
MSV3d | rs553522118 |
GWAS Ctlg | rs553522118 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs553522118(A;A) rs553522118(T;T) |
Alt | rs553522118(A;A) rs553522118(T;T) |
Reference | Rs553522118(G;G) |
Significance | Probable-Pathogenic |
Disease | Ceroid lipofuscinosis neuronal 2 |
Variation | info |
Gene | TPP1 |
CLNDBN | Ceroid lipofuscinosis neuronal 2 |
Reversed | 0 |
HGVS | NC_000011.9:g.6638569G>T |
CLNSRC | Institute of Human Genetics |
CLNACC | RCV000234824.1, |