rs118031911
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs118031911(C;T) |
Make rs118031911(T;T) |
Reference | GRCh38 38.1/142 |
Chromosome | 8 |
Position | 54629679 |
Gene | RP1 |
is a | snp |
is | mentioned by |
dbSNP | rs118031911 |
dbSNP (classic) | rs118031911 |
ClinGen | rs118031911 |
ebi | rs118031911 |
HLI | rs118031911 |
Exac | rs118031911 |
Gnomad | rs118031911 |
Varsome | rs118031911 |
LitVar | rs118031911 |
Map | rs118031911 |
PheGenI | rs118031911 |
Biobank | rs118031911 |
1000 genomes | rs118031911 |
hgdp | rs118031911 |
ensembl | rs118031911 |
geneview | rs118031911 |
scholar | rs118031911 |
rs118031911 | |
pharmgkb | rs118031911 |
gwascentral | rs118031911 |
openSNP | rs118031911 |
23andMe | rs118031911 |
SNPshot | rs118031911 |
SNPdbe | rs118031911 |
MSV3d | rs118031911 |
GWAS Ctlg | rs118031911 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs118031911(T;T) |
Alt | rs118031911(T;T) |
Reference | Rs118031911(C;C) |
Significance | Probable-Pathogenic |
Disease | Retinitis pigmentosa |
Variation | info |
Gene | RP1 |
CLNDBN | Retinitis pigmentosa |
Reversed | 0 |
HGVS | NC_000008.10:g.55542239C>T |
CLNSRC | ClinVar |
CLNACC | RCV000132661.1, |