rs200826424
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs200826424(A;A) |
Make rs200826424(A;G) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 13 |
Position | 49549530 |
Gene | RCBTB1 |
is a | snp |
is | mentioned by |
dbSNP | rs200826424 |
dbSNP (classic) | rs200826424 |
ClinGen | rs200826424 |
ebi | rs200826424 |
HLI | rs200826424 |
Exac | rs200826424 |
Gnomad | rs200826424 |
Varsome | rs200826424 |
LitVar | rs200826424 |
Map | rs200826424 |
PheGenI | rs200826424 |
Biobank | rs200826424 |
1000 genomes | rs200826424 |
hgdp | rs200826424 |
ensembl | rs200826424 |
geneview | rs200826424 |
scholar | rs200826424 |
rs200826424 | |
pharmgkb | rs200826424 |
gwascentral | rs200826424 |
openSNP | rs200826424 |
23andMe | rs200826424 |
SNPshot | rs200826424 |
SNPdbe | rs200826424 |
MSV3d | rs200826424 |
GWAS Ctlg | rs200826424 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs200826424(A;A) |
Alt | rs200826424(A;A) |
Reference | Rs200826424(G;G) |
Significance | Pathogenic |
Disease | Retinitis pigmentosa RETINAL DYSTROPHY WITH EXTRAOCULAR ANOMALIES |
Variation | info |
Gene | RCBTB1 |
CLNDBN | Retinitis pigmentosa RETINAL DYSTROPHY WITH EXTRAOCULAR ANOMALIES |
Reversed | 0 |
HGVS | NC_000013.10:g.50123666G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000239605.1, RCV000258084.1, |