rs61504484
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs61504484(A;A) |
Make rs61504484(A;C) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 13 |
Position | 76992067 |
Gene | CLN5 |
is a | snp |
is | mentioned by |
dbSNP | rs61504484 |
dbSNP (classic) | rs61504484 |
ClinGen | rs61504484 |
ebi | rs61504484 |
HLI | rs61504484 |
Exac | rs61504484 |
Gnomad | rs61504484 |
Varsome | rs61504484 |
LitVar | rs61504484 |
Map | rs61504484 |
PheGenI | rs61504484 |
Biobank | rs61504484 |
1000 genomes | rs61504484 |
hgdp | rs61504484 |
ensembl | rs61504484 |
geneview | rs61504484 |
scholar | rs61504484 |
rs61504484 | |
pharmgkb | rs61504484 |
gwascentral | rs61504484 |
openSNP | rs61504484 |
23andMe | rs61504484 |
SNPshot | rs61504484 |
SNPdbe | rs61504484 |
MSV3d | rs61504484 |
GWAS Ctlg | rs61504484 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs61504484(A;A) rs61504484(G;G) rs61504484(T;T) |
Alt | rs61504484(A;A) rs61504484(G;G) rs61504484(T;T) |
Reference | Rs61504484(C;C) |
Significance | Pathogenic |
Disease | not provided not specified |
Variation | info |
Gene | CLN5 |
CLNDBN | not provided not specified |
Reversed | 0 |
HGVS | NC_000013.10:g.77566202C>A; NC_000013.10:g.77566202C>G |
CLNSRC | |
CLNACC | RCV000187063.1, RCV000187047.2, |