rs149308952
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs149308952(A;G) |
Make rs149308952(G;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 8 |
Position | 1771524 |
Gene | CLN8 |
is a | snp |
is | mentioned by |
dbSNP | rs149308952 |
dbSNP (classic) | rs149308952 |
ClinGen | rs149308952 |
ebi | rs149308952 |
HLI | rs149308952 |
Exac | rs149308952 |
Gnomad | rs149308952 |
Varsome | rs149308952 |
LitVar | rs149308952 |
Map | rs149308952 |
PheGenI | rs149308952 |
Biobank | rs149308952 |
1000 genomes | rs149308952 |
hgdp | rs149308952 |
ensembl | rs149308952 |
geneview | rs149308952 |
scholar | rs149308952 |
rs149308952 | |
pharmgkb | rs149308952 |
gwascentral | rs149308952 |
openSNP | rs149308952 |
23andMe | rs149308952 |
SNPshot | rs149308952 |
SNPdbe | rs149308952 |
MSV3d | rs149308952 |
GWAS Ctlg | rs149308952 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs149308952(G;G) |
Alt | rs149308952(G;G) |
Reference | Rs149308952(A;A) |
Significance | Probable-Pathogenic |
Disease | Ceroid lipofuscinosis neuronal 8 |
Variation | info |
Gene | CLN8 |
CLNDBN | Ceroid lipofuscinosis neuronal 8 |
Reversed | 0 |
HGVS | NC_000008.10:g.1719690A>G |
CLNSRC | |
CLNACC | RCV000192707.1, |