rs786205857
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs786205857(C;C) |
Make rs786205857(C;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 2 |
Position | 27481061 |
Gene | IFT172 |
is a | snp |
is | mentioned by |
dbSNP | rs786205857 |
dbSNP (classic) | rs786205857 |
ClinGen | rs786205857 |
ebi | rs786205857 |
HLI | rs786205857 |
Exac | rs786205857 |
Gnomad | rs786205857 |
Varsome | rs786205857 |
LitVar | rs786205857 |
Map | rs786205857 |
PheGenI | rs786205857 |
Biobank | rs786205857 |
1000 genomes | rs786205857 |
hgdp | rs786205857 |
ensembl | rs786205857 |
geneview | rs786205857 |
scholar | rs786205857 |
rs786205857 | |
pharmgkb | rs786205857 |
gwascentral | rs786205857 |
openSNP | rs786205857 |
23andMe | rs786205857 |
SNPshot | rs786205857 |
SNPdbe | rs786205857 |
MSV3d | rs786205857 |
GWAS Ctlg | rs786205857 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs786205857(C;C) |
Alt | rs786205857(C;C) |
Reference | Rs786205857(T;T) |
Significance | Pathogenic |
Disease | Retinitis pigmentosa 71 |
Variation | info |
Gene | IFT172 |
CLNDBN | Retinitis pigmentosa 71 |
Reversed | 1 |
HGVS | NC_000002.11:g.27703928A>G |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000171551.2, |