rs28941475
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs28941475(C;T) |
Make rs28941475(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 9 |
Position | 132349421 |
Gene | SETX |
is a | snp |
is | mentioned by |
dbSNP | rs28941475 |
dbSNP (classic) | rs28941475 |
ClinGen | rs28941475 |
ebi | rs28941475 |
HLI | rs28941475 |
Exac | rs28941475 |
Gnomad | rs28941475 |
Varsome | rs28941475 |
LitVar | rs28941475 |
Map | rs28941475 |
PheGenI | rs28941475 |
Biobank | rs28941475 |
1000 genomes | rs28941475 |
hgdp | rs28941475 |
ensembl | rs28941475 |
geneview | rs28941475 |
scholar | rs28941475 |
rs28941475 | |
pharmgkb | rs28941475 |
gwascentral | rs28941475 |
openSNP | rs28941475 |
23andMe | rs28941475 |
SNPshot | rs28941475 |
SNPdbe | rs28941475 |
MSV3d | rs28941475 |
GWAS Ctlg | rs28941475 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs28941475(T;T) |
Alt | rs28941475(T;T) |
Reference | Rs28941475(C;C) |
Significance | Pathogenic |
Disease | Amyotrophic lateral sclerosis type 4 not provided |
Variation | info |
Gene | SETX |
CLNDBN | Amyotrophic lateral sclerosis type 4 not provided |
Reversed | 1 |
HGVS | NC_000009.11:g.135224808G>A |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000002380.5, RCV000414273.1, |