rs786205211
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs786205211(C;T) |
Make rs786205211(T;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 13 |
Position | 76995076 |
Gene | CLN5, FBXL3 |
is a | snp |
is | mentioned by |
dbSNP | rs786205211 |
dbSNP (classic) | rs786205211 |
ClinGen | rs786205211 |
ebi | rs786205211 |
HLI | rs786205211 |
Exac | rs786205211 |
Gnomad | rs786205211 |
Varsome | rs786205211 |
LitVar | rs786205211 |
Map | rs786205211 |
PheGenI | rs786205211 |
Biobank | rs786205211 |
1000 genomes | rs786205211 |
hgdp | rs786205211 |
ensembl | rs786205211 |
geneview | rs786205211 |
scholar | rs786205211 |
rs786205211 | |
pharmgkb | rs786205211 |
gwascentral | rs786205211 |
openSNP | rs786205211 |
23andMe | rs786205211 |
SNPshot | rs786205211 |
SNPdbe | rs786205211 |
MSV3d | rs786205211 |
GWAS Ctlg | rs786205211 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs786205211(T;T) |
Alt | rs786205211(T;T) |
Reference | Rs786205211(C;C) |
Significance | Probable-Pathogenic |
Disease | Ceroid lipofuscinosis neuronal 5 |
Variation | info |
Gene | CLN5 |
CLNDBN | Ceroid lipofuscinosis neuronal 5 |
Reversed | 0 |
HGVS | NC_000013.10:g.77569211C>T |
CLNSRC | |
CLNACC | RCV000170441.1, |