rs764883927
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs764883927(C;T) |
Make rs764883927(T;T) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 22 |
Position | 20055980 |
Gene | TANGO2 |
is a | snp |
is | mentioned by |
dbSNP | rs764883927 |
dbSNP (classic) | rs764883927 |
ClinGen | rs764883927 |
ebi | rs764883927 |
HLI | rs764883927 |
Exac | rs764883927 |
Gnomad | rs764883927 |
Varsome | rs764883927 |
LitVar | rs764883927 |
Map | rs764883927 |
PheGenI | rs764883927 |
Biobank | rs764883927 |
1000 genomes | rs764883927 |
hgdp | rs764883927 |
ensembl | rs764883927 |
geneview | rs764883927 |
scholar | rs764883927 |
rs764883927 | |
pharmgkb | rs764883927 |
gwascentral | rs764883927 |
openSNP | rs764883927 |
23andMe | rs764883927 |
SNPshot | rs764883927 |
SNPdbe | rs764883927 |
MSV3d | rs764883927 |
GWAS Ctlg | rs764883927 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs764883927(T;T) |
Alt | rs764883927(T;T) |
Reference | Rs764883927(C;C) |
Significance | Pathogenic |
Disease | Metabolic encephalomyopathic crises |
Variation | info |
Gene | TANGO2 |
CLNDBN | Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration |
Reversed | 0 |
HGVS | NC_000022.10:g.20043503C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000210334.2, |