rs752164603
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs752164603(A;A) |
Make rs752164603(A;G) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 11 |
Position | 6617022 |
Gene | TPP1 |
is a | snp |
is | mentioned by |
dbSNP | rs752164603 |
dbSNP (classic) | rs752164603 |
ClinGen | rs752164603 |
ebi | rs752164603 |
HLI | rs752164603 |
Exac | rs752164603 |
Gnomad | rs752164603 |
Varsome | rs752164603 |
LitVar | rs752164603 |
Map | rs752164603 |
PheGenI | rs752164603 |
Biobank | rs752164603 |
1000 genomes | rs752164603 |
hgdp | rs752164603 |
ensembl | rs752164603 |
geneview | rs752164603 |
scholar | rs752164603 |
rs752164603 | |
pharmgkb | rs752164603 |
gwascentral | rs752164603 |
openSNP | rs752164603 |
23andMe | rs752164603 |
SNPshot | rs752164603 |
SNPdbe | rs752164603 |
MSV3d | rs752164603 |
GWAS Ctlg | rs752164603 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs752164603(A;A) |
Alt | rs752164603(A;A) |
Reference | Rs752164603(G;G) |
Significance | Pathogenic |
Disease | Ceroid lipofuscinosis neuronal 2 |
Variation | info |
Gene | TPP1 |
CLNDBN | Ceroid lipofuscinosis neuronal 2 |
Reversed | 0 |
HGVS | NC_000011.9:g.6638253G>A |
CLNSRC | |
CLNACC | RCV000411357.1, |