rs781702398
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs781702398(A;A) |
Make rs781702398(A;C) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 5 |
Position | 64788968 |
Gene | CWC27 |
is a | snp |
is | mentioned by |
dbSNP | rs781702398 |
dbSNP (classic) | rs781702398 |
ClinGen | rs781702398 |
ebi | rs781702398 |
HLI | rs781702398 |
Exac | rs781702398 |
Gnomad | rs781702398 |
Varsome | rs781702398 |
LitVar | rs781702398 |
Map | rs781702398 |
PheGenI | rs781702398 |
Biobank | rs781702398 |
1000 genomes | rs781702398 |
hgdp | rs781702398 |
ensembl | rs781702398 |
geneview | rs781702398 |
scholar | rs781702398 |
rs781702398 | |
pharmgkb | rs781702398 |
gwascentral | rs781702398 |
openSNP | rs781702398 |
23andMe | rs781702398 |
SNPshot | rs781702398 |
SNPdbe | rs781702398 |
MSV3d | rs781702398 |
GWAS Ctlg | rs781702398 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs781702398(A;A) |
Alt | rs781702398(A;A) |
Reference | Rs781702398(C;C) |
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.64084795C>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000488878.1, |