rs144738703
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs144738703(C;T) |
Make rs144738703(T;T) |
Reference | GRCh38 38.1/142 |
Chromosome | 19 |
Position | 54123836 |
Gene | PRPF31 |
is a | snp |
is | mentioned by |
dbSNP | rs144738703 |
dbSNP (classic) | rs144738703 |
ClinGen | rs144738703 |
ebi | rs144738703 |
HLI | rs144738703 |
Exac | rs144738703 |
Gnomad | rs144738703 |
Varsome | rs144738703 |
LitVar | rs144738703 |
Map | rs144738703 |
PheGenI | rs144738703 |
Biobank | rs144738703 |
1000 genomes | rs144738703 |
hgdp | rs144738703 |
ensembl | rs144738703 |
geneview | rs144738703 |
scholar | rs144738703 |
rs144738703 | |
pharmgkb | rs144738703 |
gwascentral | rs144738703 |
openSNP | rs144738703 |
23andMe | rs144738703 |
SNPshot | rs144738703 |
SNPdbe | rs144738703 |
MSV3d | rs144738703 |
GWAS Ctlg | rs144738703 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs144738703(A;A) rs144738703(G;G) rs144738703(T;T) |
Alt | rs144738703(A;A) rs144738703(G;G) rs144738703(T;T) |
Reference | Rs144738703(C;C) |
Significance | Pathogenic |
Disease | not provided Retinitis pigmentosa |
Variation | info |
Gene | AC012314.8 PRPF31 LOC101928780 |
CLNDBN | not provided Retinitis pigmentosa |
Reversed | 0 |
HGVS | NC_000019.9:g.54627215C>A; NC_000019.9:g.54627215C>G |
CLNSRC | HGMD |
CLNACC | RCV000081777.4, RCV000132674.1, |