rs765097897
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs765097897(C;T) |
Make rs765097897(T;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 8 |
Position | 1771262 |
Gene | CLN8 |
is a | snp |
is | mentioned by |
dbSNP | rs765097897 |
dbSNP (classic) | rs765097897 |
ClinGen | rs765097897 |
ebi | rs765097897 |
HLI | rs765097897 |
Exac | rs765097897 |
Gnomad | rs765097897 |
Varsome | rs765097897 |
LitVar | rs765097897 |
Map | rs765097897 |
PheGenI | rs765097897 |
Biobank | rs765097897 |
1000 genomes | rs765097897 |
hgdp | rs765097897 |
ensembl | rs765097897 |
geneview | rs765097897 |
scholar | rs765097897 |
rs765097897 | |
pharmgkb | rs765097897 |
gwascentral | rs765097897 |
openSNP | rs765097897 |
23andMe | rs765097897 |
SNPshot | rs765097897 |
SNPdbe | rs765097897 |
MSV3d | rs765097897 |
GWAS Ctlg | rs765097897 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs765097897(T;T) |
Alt | rs765097897(T;T) |
Reference | Rs765097897(C;C) |
Significance | Probable-Pathogenic |
Disease | Ceroid lipofuscinosis neuronal 8 |
Variation | info |
Gene | CLN8 |
CLNDBN | Ceroid lipofuscinosis neuronal 8 |
Reversed | 0 |
HGVS | NC_000008.10:g.1719428C>T |
CLNSRC | |
CLNACC | RCV000201947.1, |