rs185089786
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs185089786(C;C) |
Make rs185089786(C;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 2 |
Position | 165929290 |
Gene | TTC21B |
is a | snp |
is | mentioned by |
dbSNP | rs185089786 |
dbSNP (classic) | rs185089786 |
ClinGen | rs185089786 |
ebi | rs185089786 |
HLI | rs185089786 |
Exac | rs185089786 |
Gnomad | rs185089786 |
Varsome | rs185089786 |
LitVar | rs185089786 |
Map | rs185089786 |
PheGenI | rs185089786 |
Biobank | rs185089786 |
1000 genomes | rs185089786 |
hgdp | rs185089786 |
ensembl | rs185089786 |
geneview | rs185089786 |
scholar | rs185089786 |
rs185089786 | |
pharmgkb | rs185089786 |
gwascentral | rs185089786 |
openSNP | rs185089786 |
23andMe | rs185089786 |
SNPshot | rs185089786 |
SNPdbe | rs185089786 |
MSV3d | rs185089786 |
GWAS Ctlg | rs185089786 |
GMAF | 0.0004591 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs185089786(A;A) rs185089786(C;C) |
Alt | rs185089786(A;A) rs185089786(C;C) |
Reference | Rs185089786(G;G) |
Significance | Pathogenic |
Disease | Asphyxiating thoracic dystrophy 4 |
Variation | info |
Gene | TTC21B |
CLNDBN | Asphyxiating thoracic dystrophy 4 |
Reversed | 0 |
HGVS | NC_000002.11:g.166785800G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000023927.3, |