rs1085307447
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Chromosome | 5 |
Position | 64885447 |
Gene | CWC27 |
is a | snp |
is | mentioned by |
dbSNP | rs1085307447 |
dbSNP (classic) | rs1085307447 |
ClinGen | rs1085307447 |
ebi | rs1085307447 |
HLI | rs1085307447 |
Exac | rs1085307447 |
Gnomad | rs1085307447 |
Varsome | rs1085307447 |
LitVar | rs1085307447 |
Map | rs1085307447 |
PheGenI | rs1085307447 |
Biobank | rs1085307447 |
1000 genomes | rs1085307447 |
hgdp | rs1085307447 |
ensembl | rs1085307447 |
geneview | rs1085307447 |
scholar | rs1085307447 |
rs1085307447 | |
pharmgkb | rs1085307447 |
gwascentral | rs1085307447 |
openSNP | rs1085307447 |
23andMe | rs1085307447 |
SNPshot | rs1085307447 |
SNPdbe | rs1085307447 |
MSV3d | rs1085307447 |
GWAS Ctlg | rs1085307447 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1085307447(T;T) |
Alt | rs1085307447(T;T) |
Reference | Rs1085307447(G;G) |
Significance | Pathogenic |
Disease | Retinitis pigmentosa with or without skeletal anomalies |
Variation | info |
Gene | CWC27 |
CLNDBN | Retinitis pigmentosa with or without skeletal anomalies |
Reversed | 0 |
HGVS | NC_000005.9:g.64181274G>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000488874.1, |