rs777162250
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs777162250(C;T) |
Make rs777162250(T;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 2 |
Position | 165941053 |
Gene | TTC21B, TTC21B-AS1 |
is a | snp |
is | mentioned by |
dbSNP | rs777162250 |
dbSNP (classic) | rs777162250 |
ClinGen | rs777162250 |
ebi | rs777162250 |
HLI | rs777162250 |
Exac | rs777162250 |
Gnomad | rs777162250 |
Varsome | rs777162250 |
LitVar | rs777162250 |
Map | rs777162250 |
PheGenI | rs777162250 |
Biobank | rs777162250 |
1000 genomes | rs777162250 |
hgdp | rs777162250 |
ensembl | rs777162250 |
geneview | rs777162250 |
scholar | rs777162250 |
rs777162250 | |
pharmgkb | rs777162250 |
gwascentral | rs777162250 |
openSNP | rs777162250 |
23andMe | rs777162250 |
SNPshot | rs777162250 |
SNPdbe | rs777162250 |
MSV3d | rs777162250 |
GWAS Ctlg | rs777162250 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs777162250(T;T) |
Alt | rs777162250(T;T) |
Reference | Rs777162250(C;C) |
Significance | Pathogenic |
Disease | Jeune thoracic dystrophy |
Variation | info |
Gene | TTC21B-AS1 TTC21B |
CLNDBN | Jeune thoracic dystrophy |
Reversed | 0 |
HGVS | NC_000002.11:g.166797563C>T |
CLNSRC | |
CLNACC | RCV000198427.2, |