rs1056899
From SNPedia
Orientation | minus |
Stabilized | minus |
Make rs1056899(A;A) |
Make rs1056899(A;G) |
Make rs1056899(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 9 |
Position | 132264514 |
Gene | SETX |
is a | snp |
is | mentioned by |
dbSNP | rs1056899 |
dbSNP (classic) | rs1056899 |
ClinGen | rs1056899 |
ebi | rs1056899 |
HLI | rs1056899 |
Exac | rs1056899 |
Gnomad | rs1056899 |
Varsome | rs1056899 |
LitVar | rs1056899 |
Map | rs1056899 |
PheGenI | rs1056899 |
Biobank | rs1056899 |
1000 genomes | rs1056899 |
hgdp | rs1056899 |
ensembl | rs1056899 |
geneview | rs1056899 |
scholar | rs1056899 |
rs1056899 | |
pharmgkb | rs1056899 |
gwascentral | rs1056899 |
openSNP | rs1056899 |
23andMe | rs1056899 |
SNPshot | rs1056899 |
SNPdbe | rs1056899 |
MSV3d | rs1056899 |
GWAS Ctlg | rs1056899 |
GMAF | 0.4908 |
Max Magnitude | 0 |
? | (A;A) (A;G) (G;G) | 28 |
---|---|---|
|
ClinVar | |
---|---|
Risk | rs1056899(G;G) |
Alt | rs1056899(G;G) |
Reference | rs1056899(A;A) |
Significance | Other |
Disease | not specified Ataxia with Oculomotor Apraxia Amyotrophic Lateral Sclerosis |
Variation | info |
Gene | SETX |
CLNDBN | not specified Ataxia with Oculomotor Apraxia Amyotrophic Lateral Sclerosis, Dominant |
Reversed | 1 |
HGVS | NC_000009.11:g.135139901T>C |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000081702.9, RCV000294610.1, RCV000388921.1, |