rs794729218
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs794729218(-;-) |
Make rs794729218(-;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 13 |
Position | 76995933 |
Gene | CLN5, FBXL3 |
is a | snp |
is | mentioned by |
dbSNP | rs794729218 |
dbSNP (classic) | rs794729218 |
ClinGen | rs794729218 |
ebi | rs794729218 |
HLI | rs794729218 |
Exac | rs794729218 |
Gnomad | rs794729218 |
Varsome | rs794729218 |
LitVar | rs794729218 |
Map | rs794729218 |
PheGenI | rs794729218 |
Biobank | rs794729218 |
1000 genomes | rs794729218 |
hgdp | rs794729218 |
ensembl | rs794729218 |
geneview | rs794729218 |
scholar | rs794729218 |
rs794729218 | |
pharmgkb | rs794729218 |
gwascentral | rs794729218 |
openSNP | rs794729218 |
23andMe | rs794729218 |
SNPshot | rs794729218 |
SNPdbe | rs794729218 |
MSV3d | rs794729218 |
GWAS Ctlg | rs794729218 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs794729218(-;-) |
Alt | rs794729218(-;-) |
Reference | Rs794729218(G;G) |
Significance | Pathogenic |
Disease | Ceroid lipofuscinosis neuronal 5 |
Variation | info |
Gene | CLN5 |
CLNDBN | Ceroid lipofuscinosis neuronal 5 |
Reversed | 0 |
HGVS | NC_000013.10:g.77570068delG |
CLNSRC | |
CLNACC | RCV000184038.1, |