rs587776709
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs587776709(-;C) |
Make rs587776709(C;C) |
Reference | GRCh38 38.1/142 |
Chromosome | 14 |
Position | 36519104 |
Gene | NKX2-1, NKX2-1-AS1, SFTA3 |
is a | snp |
is | mentioned by |
dbSNP | rs587776709 |
dbSNP (classic) | rs587776709 |
ClinGen | rs587776709 |
ebi | rs587776709 |
HLI | rs587776709 |
Exac | rs587776709 |
Gnomad | rs587776709 |
Varsome | rs587776709 |
LitVar | rs587776709 |
Map | rs587776709 |
PheGenI | rs587776709 |
Biobank | rs587776709 |
1000 genomes | rs587776709 |
hgdp | rs587776709 |
ensembl | rs587776709 |
geneview | rs587776709 |
scholar | rs587776709 |
rs587776709 | |
pharmgkb | rs587776709 |
gwascentral | rs587776709 |
openSNP | rs587776709 |
23andMe | rs587776709 |
SNPshot | rs587776709 |
SNPdbe | rs587776709 |
MSV3d | rs587776709 |
GWAS Ctlg | rs587776709 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs587776709(C;C) |
Alt | rs587776709(C;C) |
Reference | Rs587776709(-;-) |
Significance | Pathogenic |
Disease | Choreoathetosis |
Variation | info |
Gene | NKX2-1-AS1 SFTA3 NKX2-1 |
CLNDBN | Choreoathetosis, hypothyroidism, and neonatal respiratory distress |
Reversed | 0 |
HGVS | NC_000014.8:g.36988309dupC |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000009544.4, |