rs752298579
From SNPedia
Orientation | plus |
Stabilized | plus |
Make rs752298579(A;A) |
Make rs752298579(A;G) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 22 |
Position | 20061538 |
Gene | TANGO2 |
is a | snp |
is | mentioned by |
dbSNP | rs752298579 |
dbSNP (classic) | rs752298579 |
ClinGen | rs752298579 |
ebi | rs752298579 |
HLI | rs752298579 |
Exac | rs752298579 |
Gnomad | rs752298579 |
Varsome | rs752298579 |
LitVar | rs752298579 |
Map | rs752298579 |
PheGenI | rs752298579 |
Biobank | rs752298579 |
1000 genomes | rs752298579 |
hgdp | rs752298579 |
ensembl | rs752298579 |
geneview | rs752298579 |
scholar | rs752298579 |
rs752298579 | |
pharmgkb | rs752298579 |
gwascentral | rs752298579 |
openSNP | rs752298579 |
23andMe | rs752298579 |
SNPshot | rs752298579 |
SNPdbe | rs752298579 |
MSV3d | rs752298579 |
GWAS Ctlg | rs752298579 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs752298579(A;A) |
Alt | rs752298579(A;A) |
Reference | Rs752298579(G;G) |
Significance | Pathogenic |
Disease | Acute rhabdomyolysis Cardiac arrhythmia Episodic flaccid weakness Intellectual functioning disability Seizures Metabolic encephalomyopathic crises |
Variation | info |
Gene | TANGO2 |
CLNDBN | Acute rhabdomyolysis Cardiac arrhythmia Episodic flaccid weakness Intellectual functioning disability Seizures Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration |
Reversed | 0 |
HGVS | NC_000022.10:g.20049061G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000210033.1, RCV000210337.2, |