rs141252097
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs141252097(G;T) |
Make rs141252097(T;T) |
Reference | GRCh38.p7 38.3/149 |
Chromosome | 5 |
Position | 149944370 |
Gene | PDE6A |
is a | snp |
is | mentioned by |
dbSNP | rs141252097 |
dbSNP (classic) | rs141252097 |
ClinGen | rs141252097 |
ebi | rs141252097 |
HLI | rs141252097 |
Exac | rs141252097 |
Gnomad | rs141252097 |
Varsome | rs141252097 |
LitVar | rs141252097 |
Map | rs141252097 |
PheGenI | rs141252097 |
Biobank | rs141252097 |
1000 genomes | rs141252097 |
hgdp | rs141252097 |
ensembl | rs141252097 |
geneview | rs141252097 |
scholar | rs141252097 |
rs141252097 | |
pharmgkb | rs141252097 |
gwascentral | rs141252097 |
openSNP | rs141252097 |
23andMe | rs141252097 |
SNPshot | rs141252097 |
SNPdbe | rs141252097 |
MSV3d | rs141252097 |
GWAS Ctlg | rs141252097 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs141252097(A;A) rs141252097(T;T) |
Alt | rs141252097(A;A) rs141252097(T;T) |
Reference | Rs141252097(G;G) |
Significance | Probable-Pathogenic |
Disease | not specified Retinitis Pigmentosa |
Variation | info |
Gene | PDE6A |
CLNDBN | not specified Retinitis Pigmentosa, Recessive |
Reversed | 0 |
HGVS | NC_000005.9:g.149323933G>T |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000173136.1, RCV000407624.1, |