rs730880025
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs730880025(C;T) |
Make rs730880025(T;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 2 |
Position | 219250741 |
Gene | STK16, TUBA4A |
is a | snp |
is | mentioned by |
dbSNP | rs730880025 |
dbSNP (classic) | rs730880025 |
ClinGen | rs730880025 |
ebi | rs730880025 |
HLI | rs730880025 |
Exac | rs730880025 |
Gnomad | rs730880025 |
Varsome | rs730880025 |
LitVar | rs730880025 |
Map | rs730880025 |
PheGenI | rs730880025 |
Biobank | rs730880025 |
1000 genomes | rs730880025 |
hgdp | rs730880025 |
ensembl | rs730880025 |
geneview | rs730880025 |
scholar | rs730880025 |
rs730880025 | |
pharmgkb | rs730880025 |
gwascentral | rs730880025 |
openSNP | rs730880025 |
23andMe | rs730880025 |
SNPshot | rs730880025 |
SNPdbe | rs730880025 |
MSV3d | rs730880025 |
GWAS Ctlg | rs730880025 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs730880025(T;T) |
Alt | rs730880025(T;T) |
Reference | Rs730880025(C;C) |
Significance | Pathogenic |
Disease | Amyotrophic lateral sclerosis 22 with or without frontotemporal dementia |
Variation | info |
Gene | STK16 TUBA4A |
CLNDBN | Amyotrophic lateral sclerosis 22 with or without frontotemporal dementia |
Reversed | 1 |
HGVS | NC_000002.11:g.220115463G>A |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000157034.3, |