rs1085307446
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Chromosome | 5 |
Position | 64785579 |
Gene | CWC27 |
is a | snp |
is | mentioned by |
dbSNP | rs1085307446 |
dbSNP (classic) | rs1085307446 |
ClinGen | rs1085307446 |
ebi | rs1085307446 |
HLI | rs1085307446 |
Exac | rs1085307446 |
Gnomad | rs1085307446 |
Varsome | rs1085307446 |
LitVar | rs1085307446 |
Map | rs1085307446 |
PheGenI | rs1085307446 |
Biobank | rs1085307446 |
1000 genomes | rs1085307446 |
hgdp | rs1085307446 |
ensembl | rs1085307446 |
geneview | rs1085307446 |
scholar | rs1085307446 |
rs1085307446 | |
pharmgkb | rs1085307446 |
gwascentral | rs1085307446 |
openSNP | rs1085307446 |
23andMe | rs1085307446 |
SNPshot | rs1085307446 |
SNPdbe | rs1085307446 |
MSV3d | rs1085307446 |
GWAS Ctlg | rs1085307446 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1085307446(A;A) |
Alt | rs1085307446(A;A) |
Reference | Rs1085307446(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.64081406G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000488877.1, |