rs199826737
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs199826737(C;T) |
Make rs199826737(T;T) |
Reference | GRCh38 38.1/142 |
Chromosome | 16 |
Position | 1571494 |
Gene | IFT140 |
is a | snp |
is | mentioned by |
dbSNP | rs199826737 |
dbSNP (classic) | rs199826737 |
ClinGen | rs199826737 |
ebi | rs199826737 |
HLI | rs199826737 |
Exac | rs199826737 |
Gnomad | rs199826737 |
Varsome | rs199826737 |
LitVar | rs199826737 |
Map | rs199826737 |
PheGenI | rs199826737 |
Biobank | rs199826737 |
1000 genomes | rs199826737 |
hgdp | rs199826737 |
ensembl | rs199826737 |
geneview | rs199826737 |
scholar | rs199826737 |
rs199826737 | |
pharmgkb | rs199826737 |
gwascentral | rs199826737 |
openSNP | rs199826737 |
23andMe | rs199826737 |
SNPshot | rs199826737 |
SNPdbe | rs199826737 |
MSV3d | rs199826737 |
GWAS Ctlg | rs199826737 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs199826737(T;T) |
Alt | rs199826737(T;T) |
Reference | Rs199826737(C;C) |
Significance | Pathogenic |
Disease | Short-rib thoracic dysplasia without polydactyly |
Variation | info |
Gene | IFT140 |
CLNDBN | Short-rib thoracic dysplasia without polydactyly |
Reversed | 0 |
HGVS | NC_000016.9:g.1621495C>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000083298.3, |