rs398124220
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs398124220(G;G) |
Make rs398124220(G;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 8 |
Position | 54628901 |
Gene | RP1 |
is a | snp |
is | mentioned by |
dbSNP | rs398124220 |
dbSNP (classic) | rs398124220 |
ClinGen | rs398124220 |
ebi | rs398124220 |
HLI | rs398124220 |
Exac | rs398124220 |
Gnomad | rs398124220 |
Varsome | rs398124220 |
LitVar | rs398124220 |
Map | rs398124220 |
PheGenI | rs398124220 |
Biobank | rs398124220 |
1000 genomes | rs398124220 |
hgdp | rs398124220 |
ensembl | rs398124220 |
geneview | rs398124220 |
scholar | rs398124220 |
rs398124220 | |
pharmgkb | rs398124220 |
gwascentral | rs398124220 |
openSNP | rs398124220 |
23andMe | rs398124220 |
SNPshot | rs398124220 |
SNPdbe | rs398124220 |
MSV3d | rs398124220 |
GWAS Ctlg | rs398124220 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs398124220(G;G) |
Alt | rs398124220(G;G) |
Reference | Rs398124220(T;T) |
Significance | Pathogenic |
Disease | Retinitis pigmentosa 1 |
Variation | info |
Gene | RP1 |
CLNDBN | Retinitis pigmentosa 1 |
Reversed | 0 |
HGVS | NC_000008.10:g.55541461T>G |
CLNSRC | ClinVar Emory University |
CLNACC | RCV000081372.4, |