rs137853190
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs137853190(A;A) |
Make rs137853190(A;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 6 |
Position | 63720626 |
Gene | EYS |
is a | snp |
is | mentioned by |
dbSNP | rs137853190 |
dbSNP (classic) | rs137853190 |
ClinGen | rs137853190 |
ebi | rs137853190 |
HLI | rs137853190 |
Exac | rs137853190 |
Gnomad | rs137853190 |
Varsome | rs137853190 |
LitVar | rs137853190 |
Map | rs137853190 |
PheGenI | rs137853190 |
Biobank | rs137853190 |
1000 genomes | rs137853190 |
hgdp | rs137853190 |
ensembl | rs137853190 |
geneview | rs137853190 |
scholar | rs137853190 |
rs137853190 | |
pharmgkb | rs137853190 |
gwascentral | rs137853190 |
openSNP | rs137853190 |
23andMe | rs137853190 |
SNPshot | rs137853190 |
SNPdbe | rs137853190 |
MSV3d | rs137853190 |
GWAS Ctlg | rs137853190 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs137853190(A;A) |
Alt | rs137853190(A;A) |
Reference | Rs137853190(T;T) |
Significance | Pathogenic |
Disease | Retinitis pigmentosa 25 |
Variation | info |
Gene | EYS |
CLNDBN | Retinitis pigmentosa 25 |
Reversed | 1 |
HGVS | NC_000006.11:g.64430522A>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000000568.2, |