rs377269054
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs377269054(A;A) |
Make rs377269054(A;G) |
Reference | GRCh38 38.1/142 |
Chromosome | 8 |
Position | 10622967 |
Gene | RP1L1 |
is a | snp |
is | mentioned by |
dbSNP | rs377269054 |
dbSNP (classic) | rs377269054 |
ClinGen | rs377269054 |
ebi | rs377269054 |
HLI | rs377269054 |
Exac | rs377269054 |
Gnomad | rs377269054 |
Varsome | rs377269054 |
LitVar | rs377269054 |
Map | rs377269054 |
PheGenI | rs377269054 |
Biobank | rs377269054 |
1000 genomes | rs377269054 |
hgdp | rs377269054 |
ensembl | rs377269054 |
geneview | rs377269054 |
scholar | rs377269054 |
rs377269054 | |
pharmgkb | rs377269054 |
gwascentral | rs377269054 |
openSNP | rs377269054 |
23andMe | rs377269054 |
SNPshot | rs377269054 |
SNPdbe | rs377269054 |
MSV3d | rs377269054 |
GWAS Ctlg | rs377269054 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs377269054(A;A) |
Alt | rs377269054(A;A) |
Reference | Rs377269054(G;G) |
Significance | Probable-Pathogenic |
Disease | Retinitis pigmentosa |
Variation | info |
Gene | RP1L1 |
CLNDBN | Retinitis pigmentosa |
Reversed | 0 |
HGVS | NC_000008.10:g.10480477G>A |
CLNSRC | ClinVar |
CLNACC | RCV000132696.1, |