rs797045002
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs797045002(G;T) |
Make rs797045002(T;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 3 |
Position | 123325321 |
Gene | ADCY5 |
is a | snp |
is | mentioned by |
dbSNP | rs797045002 |
dbSNP (classic) | rs797045002 |
ClinGen | rs797045002 |
ebi | rs797045002 |
HLI | rs797045002 |
Exac | rs797045002 |
Gnomad | rs797045002 |
Varsome | rs797045002 |
LitVar | rs797045002 |
Map | rs797045002 |
PheGenI | rs797045002 |
Biobank | rs797045002 |
1000 genomes | rs797045002 |
hgdp | rs797045002 |
ensembl | rs797045002 |
geneview | rs797045002 |
scholar | rs797045002 |
rs797045002 | |
pharmgkb | rs797045002 |
gwascentral | rs797045002 |
openSNP | rs797045002 |
23andMe | rs797045002 |
SNPshot | rs797045002 |
SNPdbe | rs797045002 |
MSV3d | rs797045002 |
GWAS Ctlg | rs797045002 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs797045002(A;A) rs797045002(T;T) |
Alt | rs797045002(A;A) rs797045002(T;T) |
Reference | Rs797045002(G;G) |
Significance | Pathogenic |
Disease | Dyskinesia |
Variation | info |
Gene | ADCY5 |
CLNDBN | Dyskinesia, familial, with facial myokymia |
Reversed | 1 |
HGVS | NC_000003.11:g.123044168C>A; NC_000003.11:g.123044168C>T |
CLNSRC | |
CLNACC | RCV000190498.1, RCV000202586.1, |