rs886037745
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs886037745(-;TGTACTGC) |
Make rs886037745(TGTACTGC;TGTACTGC) |
Reference | GRCh38.p7 38.3/149 |
Chromosome | 19 |
Position | 49861264 |
Gene | PNKP, PTOV1-AS2 |
is a | snp |
is | mentioned by |
dbSNP | rs886037745 |
dbSNP (classic) | rs886037745 |
ClinGen | rs886037745 |
ebi | rs886037745 |
HLI | rs886037745 |
Exac | rs886037745 |
Gnomad | rs886037745 |
Varsome | rs886037745 |
LitVar | rs886037745 |
Map | rs886037745 |
PheGenI | rs886037745 |
Biobank | rs886037745 |
1000 genomes | rs886037745 |
hgdp | rs886037745 |
ensembl | rs886037745 |
geneview | rs886037745 |
scholar | rs886037745 |
rs886037745 | |
pharmgkb | rs886037745 |
gwascentral | rs886037745 |
openSNP | rs886037745 |
23andMe | rs886037745 |
SNPshot | rs886037745 |
SNPdbe | rs886037745 |
MSV3d | rs886037745 |
GWAS Ctlg | rs886037745 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs886037745(TGTACTGC;TGTACTGC) |
Alt | rs886037745(TGTACTGC;TGTACTGC) |
Reference | Rs886037745(-;-) |
Significance | Pathogenic |
Disease | Ataxia-oculomotor apraxia 4 |
Variation | info |
Gene | PNKP PTOV1-AS2 |
CLNDBN | Ataxia-oculomotor apraxia 4 |
Reversed | 1 |
HGVS | NC_000019.9:g.50364521_50364522insGCAGTACA |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000167525.4, |