rs587776585
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;A) | 5 | Treacher Collins syndrome, type 1 (predicted) |
(A;A) | 0 | common in clinvar |
Make rs587776585(-;-) |
Reference | GRCh38 38.1/142 |
Chromosome | 5 |
Position | 150398376 |
Gene | TCOF1 |
is a | snp |
is | mentioned by |
dbSNP | rs587776585 |
dbSNP (classic) | rs587776585 |
ClinGen | rs587776585 |
ebi | rs587776585 |
HLI | rs587776585 |
Exac | rs587776585 |
Gnomad | rs587776585 |
Varsome | rs587776585 |
LitVar | rs587776585 |
Map | rs587776585 |
PheGenI | rs587776585 |
Biobank | rs587776585 |
1000 genomes | rs587776585 |
hgdp | rs587776585 |
ensembl | rs587776585 |
geneview | rs587776585 |
scholar | rs587776585 |
rs587776585 | |
pharmgkb | rs587776585 |
gwascentral | rs587776585 |
openSNP | rs587776585 |
23andMe | rs587776585 |
SNPshot | rs587776585 |
SNPdbe | rs587776585 |
MSV3d | rs587776585 |
GWAS Ctlg | rs587776585 |
Max Magnitude | 5 |
ClinVar | |
---|---|
Risk | rs587776585(-;-) |
Alt | rs587776585(-;-) |
Reference | Rs587776585(A;A) |
Significance | Pathogenic |
Disease | Treacher Collins syndrome 1 |
Variation | info |
Gene | TCOF1 |
CLNDBN | Treacher Collins syndrome 1 |
Reversed | 0 |
HGVS | NC_000005.9:g.149777939delA |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000004174.3, |