rs28936671
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
(G;G) | 0 |
Make rs28936671(A;A) |
Make rs28936671(A;C) |
Reference | GRCh38 38.1/141 |
Chromosome | 14 |
Position | 36517757 |
Gene | NKX2-1, NKX2-1-AS1, SFTA3 |
is a | snp |
is | mentioned by |
dbSNP | rs28936671 |
dbSNP (classic) | rs28936671 |
ClinGen | rs28936671 |
ebi | rs28936671 |
HLI | rs28936671 |
Exac | rs28936671 |
Gnomad | rs28936671 |
Varsome | rs28936671 |
LitVar | rs28936671 |
Map | rs28936671 |
PheGenI | rs28936671 |
Biobank | rs28936671 |
1000 genomes | rs28936671 |
hgdp | rs28936671 |
ensembl | rs28936671 |
geneview | rs28936671 |
scholar | rs28936671 |
rs28936671 | |
pharmgkb | rs28936671 |
gwascentral | rs28936671 |
openSNP | rs28936671 |
23andMe | rs28936671 |
SNPshot | rs28936671 |
SNPdbe | rs28936671 |
MSV3d | rs28936671 |
GWAS Ctlg | rs28936671 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs28936671(A;A) |
Alt | rs28936671(A;A) |
Reference | Rs28936671(C;C) |
Significance | Pathogenic |
Disease | Benign hereditary chorea |
Variation | info |
Gene | NKX2-1-AS1 NKX2-1 SFTA3 |
CLNDBN | Benign hereditary chorea |
Reversed | 1 |
HGVS | NC_000014.8:g.36986962G>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000009536.4, |