rs863223343
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs863223343(C;C) |
Make rs863223343(C;T) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 20 |
Position | 3912514 |
Gene | PANK2 |
is a | snp |
is | mentioned by |
dbSNP | rs863223343 |
dbSNP (classic) | rs863223343 |
ClinGen | rs863223343 |
ebi | rs863223343 |
HLI | rs863223343 |
Exac | rs863223343 |
Gnomad | rs863223343 |
Varsome | rs863223343 |
LitVar | rs863223343 |
Map | rs863223343 |
PheGenI | rs863223343 |
Biobank | rs863223343 |
1000 genomes | rs863223343 |
hgdp | rs863223343 |
ensembl | rs863223343 |
geneview | rs863223343 |
scholar | rs863223343 |
rs863223343 | |
pharmgkb | rs863223343 |
gwascentral | rs863223343 |
openSNP | rs863223343 |
23andMe | rs863223343 |
SNPshot | rs863223343 |
SNPdbe | rs863223343 |
MSV3d | rs863223343 |
GWAS Ctlg | rs863223343 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs863223343(A;A) rs863223343(C;C) |
Alt | rs863223343(A;A) rs863223343(C;C) |
Reference | Rs863223343(T;T) |
Significance | Pathogenic |
Disease | Retinitis pigmentosa |
Variation | info |
Gene | PANK2 |
CLNDBN | Retinitis pigmentosa |
Reversed | 0 |
HGVS | NC_000020.10:g.3893161T>C |
CLNSRC | |
CLNACC | RCV000201489.1, |