rs756267448
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs756267448(G;T) |
Make rs756267448(T;T) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 8 |
Position | 1771598 |
Gene | CLN8 |
is a | snp |
is | mentioned by |
dbSNP | rs756267448 |
dbSNP (classic) | rs756267448 |
ClinGen | rs756267448 |
ebi | rs756267448 |
HLI | rs756267448 |
Exac | rs756267448 |
Gnomad | rs756267448 |
Varsome | rs756267448 |
LitVar | rs756267448 |
Map | rs756267448 |
PheGenI | rs756267448 |
Biobank | rs756267448 |
1000 genomes | rs756267448 |
hgdp | rs756267448 |
ensembl | rs756267448 |
geneview | rs756267448 |
scholar | rs756267448 |
rs756267448 | |
pharmgkb | rs756267448 |
gwascentral | rs756267448 |
openSNP | rs756267448 |
23andMe | rs756267448 |
SNPshot | rs756267448 |
SNPdbe | rs756267448 |
MSV3d | rs756267448 |
GWAS Ctlg | rs756267448 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs756267448(T;T) |
Alt | rs756267448(T;T) |
Reference | Rs756267448(G;G) |
Significance | Probable-Pathogenic |
Disease | Ceroid lipofuscinosis neuronal 8 |
Variation | info |
Gene | CLN8 |
CLNDBN | Ceroid lipofuscinosis neuronal 8 |
Reversed | 0 |
HGVS | NC_000008.10:g.1719764G>T |
CLNSRC | |
CLNACC | RCV000410670.1, |