rs140709867
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs140709867(C;T) |
Make rs140709867(T;T) |
Reference | GRCh38 38.1/142 |
Chromosome | 17 |
Position | 42565668 |
Gene | COASY, MLX |
is a | snp |
is | mentioned by |
dbSNP | rs140709867 |
dbSNP (classic) | rs140709867 |
ClinGen | rs140709867 |
ebi | rs140709867 |
HLI | rs140709867 |
Exac | rs140709867 |
Gnomad | rs140709867 |
Varsome | rs140709867 |
LitVar | rs140709867 |
Map | rs140709867 |
PheGenI | rs140709867 |
Biobank | rs140709867 |
1000 genomes | rs140709867 |
hgdp | rs140709867 |
ensembl | rs140709867 |
geneview | rs140709867 |
scholar | rs140709867 |
rs140709867 | |
pharmgkb | rs140709867 |
gwascentral | rs140709867 |
openSNP | rs140709867 |
23andMe | rs140709867 |
SNPshot | rs140709867 |
SNPdbe | rs140709867 |
MSV3d | rs140709867 |
GWAS Ctlg | rs140709867 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs140709867(A;A) rs140709867(T;T) |
Alt | rs140709867(A;A) rs140709867(T;T) |
Reference | Rs140709867(C;C) |
Significance | Pathogenic |
Disease | Neurodegeneration with brain iron accumulation 6 |
Variation | info |
Gene | COASY MLX |
CLNDBN | Neurodegeneration with brain iron accumulation 6 |
Reversed | 0 |
HGVS | NC_000017.10:g.40717686C>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000087062.3, |