rs746645358
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs746645358(A;A) |
Make rs746645358(A;G) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 8 |
Position | 1780415 |
Gene | CLN8 |
is a | snp |
is | mentioned by |
dbSNP | rs746645358 |
dbSNP (classic) | rs746645358 |
ClinGen | rs746645358 |
ebi | rs746645358 |
HLI | rs746645358 |
Exac | rs746645358 |
Gnomad | rs746645358 |
Varsome | rs746645358 |
LitVar | rs746645358 |
Map | rs746645358 |
PheGenI | rs746645358 |
Biobank | rs746645358 |
1000 genomes | rs746645358 |
hgdp | rs746645358 |
ensembl | rs746645358 |
geneview | rs746645358 |
scholar | rs746645358 |
rs746645358 | |
pharmgkb | rs746645358 |
gwascentral | rs746645358 |
openSNP | rs746645358 |
23andMe | rs746645358 |
SNPshot | rs746645358 |
SNPdbe | rs746645358 |
MSV3d | rs746645358 |
GWAS Ctlg | rs746645358 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs746645358(A;A) |
Alt | rs746645358(A;A) |
Reference | Rs746645358(G;G) |
Significance | Probable-Pathogenic |
Disease | Ceroid lipofuscinosis neuronal 8 not provided |
Variation | info |
Gene | CLN8 |
CLNDBN | Ceroid lipofuscinosis neuronal 8 not provided |
Reversed | 0 |
HGVS | NC_000008.10:g.1728581G>A |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000169279.1, RCV000187126.2, |