rs786205855
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs786205855(A;A) |
Make rs786205855(A;C) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 2 |
Position | 27446314 |
Gene | IFT172, KRTCAP3 |
is a | snp |
is | mentioned by |
dbSNP | rs786205855 |
dbSNP (classic) | rs786205855 |
ClinGen | rs786205855 |
ebi | rs786205855 |
HLI | rs786205855 |
Exac | rs786205855 |
Gnomad | rs786205855 |
Varsome | rs786205855 |
LitVar | rs786205855 |
Map | rs786205855 |
PheGenI | rs786205855 |
Biobank | rs786205855 |
1000 genomes | rs786205855 |
hgdp | rs786205855 |
ensembl | rs786205855 |
geneview | rs786205855 |
scholar | rs786205855 |
rs786205855 | |
pharmgkb | rs786205855 |
gwascentral | rs786205855 |
openSNP | rs786205855 |
23andMe | rs786205855 |
SNPshot | rs786205855 |
SNPdbe | rs786205855 |
MSV3d | rs786205855 |
GWAS Ctlg | rs786205855 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs786205855(A;A) |
Alt | rs786205855(A;A) |
Reference | Rs786205855(C;C) |
Significance | Pathogenic |
Disease | Retinitis pigmentosa 71 |
Variation | info |
Gene | KRTCAP3 IFT172 |
CLNDBN | Retinitis pigmentosa 71 |
Reversed | 1 |
HGVS | NC_000002.11:g.27669181G>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000171548.2, |