rs199882533
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs199882533(A;A) |
Make rs199882533(A;G) |
Reference | GRCh38 38.1/142 |
Chromosome | 14 |
Position | 75764691 |
Gene | TTLL5 |
is a | snp |
is | mentioned by |
dbSNP | rs199882533 |
dbSNP (classic) | rs199882533 |
ClinGen | rs199882533 |
ebi | rs199882533 |
HLI | rs199882533 |
Exac | rs199882533 |
Gnomad | rs199882533 |
Varsome | rs199882533 |
LitVar | rs199882533 |
Map | rs199882533 |
PheGenI | rs199882533 |
Biobank | rs199882533 |
1000 genomes | rs199882533 |
hgdp | rs199882533 |
ensembl | rs199882533 |
geneview | rs199882533 |
scholar | rs199882533 |
rs199882533 | |
pharmgkb | rs199882533 |
gwascentral | rs199882533 |
openSNP | rs199882533 |
23andMe | rs199882533 |
SNPshot | rs199882533 |
SNPdbe | rs199882533 |
MSV3d | rs199882533 |
GWAS Ctlg | rs199882533 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs199882533(A;A) rs199882533(T;T) |
Alt | rs199882533(A;A) rs199882533(T;T) |
Reference | Rs199882533(G;G) |
Significance | Pathogenic |
Disease | Cone-rod dystrophy 19 |
Variation | info |
Gene | TTLL5 |
CLNDBN | Cone-rod dystrophy 19 |
Reversed | 0 |
HGVS | NC_000014.8:g.76231034G>A; NC_000014.8:g.76231034G>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000128418.2, RCV000128417.2, |