rs28941769
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
(A;G) | 5 | Treacher Collins syndrome, type 1 (predicted) |
Make rs28941769(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 5 |
Position | 150361196 |
Gene | TCOF1 |
is a | snp |
is | mentioned by |
dbSNP | rs28941769 |
dbSNP (classic) | rs28941769 |
ClinGen | rs28941769 |
ebi | rs28941769 |
HLI | rs28941769 |
Exac | rs28941769 |
Gnomad | rs28941769 |
Varsome | rs28941769 |
LitVar | rs28941769 |
Map | rs28941769 |
PheGenI | rs28941769 |
Biobank | rs28941769 |
1000 genomes | rs28941769 |
hgdp | rs28941769 |
ensembl | rs28941769 |
geneview | rs28941769 |
scholar | rs28941769 |
rs28941769 | |
pharmgkb | rs28941769 |
gwascentral | rs28941769 |
openSNP | rs28941769 |
23andMe | rs28941769 |
SNPshot | rs28941769 |
SNPdbe | rs28941769 |
MSV3d | rs28941769 |
GWAS Ctlg | rs28941769 |
Max Magnitude | 5 |
ClinVar | |
---|---|
Risk | rs28941769(G;G) |
Alt | rs28941769(G;G) |
Reference | Rs28941769(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.149740759A>G |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000004170.4, |