rs144495588
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs144495588(G;T) |
Make rs144495588(T;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 8 |
Position | 1771553 |
Gene | CLN8 |
is a | snp |
is | mentioned by |
dbSNP | rs144495588 |
dbSNP (classic) | rs144495588 |
ClinGen | rs144495588 |
ebi | rs144495588 |
HLI | rs144495588 |
Exac | rs144495588 |
Gnomad | rs144495588 |
Varsome | rs144495588 |
LitVar | rs144495588 |
Map | rs144495588 |
PheGenI | rs144495588 |
Biobank | rs144495588 |
1000 genomes | rs144495588 |
hgdp | rs144495588 |
ensembl | rs144495588 |
geneview | rs144495588 |
scholar | rs144495588 |
rs144495588 | |
pharmgkb | rs144495588 |
gwascentral | rs144495588 |
openSNP | rs144495588 |
23andMe | rs144495588 |
SNPshot | rs144495588 |
SNPdbe | rs144495588 |
MSV3d | rs144495588 |
GWAS Ctlg | rs144495588 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs144495588(C;C) rs144495588(T;T) |
Alt | rs144495588(C;C) rs144495588(T;T) |
Reference | Rs144495588(G;G) |
Significance | Pathogenic |
Disease | not provided |
Variation | info |
Gene | CLN8 |
CLNDBN | not provided |
Reversed | 0 |
HGVS | NC_000008.10:g.1719719G>T |
CLNSRC | |
CLNACC | RCV000187127.2, |