rs780551883
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs780551883(A;A) |
Make rs780551883(A;G) |
Reference | GRCh38.p7 38.3/149 |
Chromosome | 20 |
Position | 3889410 |
Gene | LOC107985395, PANK2 |
is a | snp |
is | mentioned by |
dbSNP | rs780551883 |
dbSNP (classic) | rs780551883 |
ClinGen | rs780551883 |
ebi | rs780551883 |
HLI | rs780551883 |
Exac | rs780551883 |
Gnomad | rs780551883 |
Varsome | rs780551883 |
LitVar | rs780551883 |
Map | rs780551883 |
PheGenI | rs780551883 |
Biobank | rs780551883 |
1000 genomes | rs780551883 |
hgdp | rs780551883 |
ensembl | rs780551883 |
geneview | rs780551883 |
scholar | rs780551883 |
rs780551883 | |
pharmgkb | rs780551883 |
gwascentral | rs780551883 |
openSNP | rs780551883 |
23andMe | rs780551883 |
SNPshot | rs780551883 |
SNPdbe | rs780551883 |
MSV3d | rs780551883 |
GWAS Ctlg | rs780551883 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs780551883(A;A) rs780551883(T;T) |
Alt | rs780551883(A;A) rs780551883(T;T) |
Reference | Rs780551883(G;G) |
Significance | Pathogenic |
Disease | Pigmentary pallidal degeneration |
Variation | info |
Gene | PANK2 |
CLNDBN | Pigmentary pallidal degeneration |
Reversed | 0 |
HGVS | NC_000020.10:g.3870057G>T |
CLNSRC | |
CLNACC | RCV000357905.1, |