rs863223281
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs863223281(A;G) |
Make rs863223281(G;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 14 |
Position | 92025422 |
Gene | TRIP11 |
is a | snp |
is | mentioned by |
dbSNP | rs863223281 |
dbSNP (classic) | rs863223281 |
ClinGen | rs863223281 |
ebi | rs863223281 |
HLI | rs863223281 |
Exac | rs863223281 |
Gnomad | rs863223281 |
Varsome | rs863223281 |
LitVar | rs863223281 |
Map | rs863223281 |
PheGenI | rs863223281 |
Biobank | rs863223281 |
1000 genomes | rs863223281 |
hgdp | rs863223281 |
ensembl | rs863223281 |
geneview | rs863223281 |
scholar | rs863223281 |
rs863223281 | |
pharmgkb | rs863223281 |
gwascentral | rs863223281 |
openSNP | rs863223281 |
23andMe | rs863223281 |
SNPshot | rs863223281 |
SNPdbe | rs863223281 |
MSV3d | rs863223281 |
GWAS Ctlg | rs863223281 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs863223281(G;G) |
Alt | rs863223281(G;G) |
Reference | Rs863223281(A;A) |
Significance | Pathogenic |
Disease | Achondrogenesis |
Variation | info |
Gene | TRIP11 |
CLNDBN | Achondrogenesis, type IA |
Reversed | 1 |
HGVS | NC_000014.8:g.92491766T>C |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000005845.2, |