rs730880026
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs730880026(A;A) |
Make rs730880026(A;G) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 2 |
Position | 219250740 |
Gene | STK16, TUBA4A |
is a | snp |
is | mentioned by |
dbSNP | rs730880026 |
dbSNP (classic) | rs730880026 |
ClinGen | rs730880026 |
ebi | rs730880026 |
HLI | rs730880026 |
Exac | rs730880026 |
Gnomad | rs730880026 |
Varsome | rs730880026 |
LitVar | rs730880026 |
Map | rs730880026 |
PheGenI | rs730880026 |
Biobank | rs730880026 |
1000 genomes | rs730880026 |
hgdp | rs730880026 |
ensembl | rs730880026 |
geneview | rs730880026 |
scholar | rs730880026 |
rs730880026 | |
pharmgkb | rs730880026 |
gwascentral | rs730880026 |
openSNP | rs730880026 |
23andMe | rs730880026 |
SNPshot | rs730880026 |
SNPdbe | rs730880026 |
MSV3d | rs730880026 |
GWAS Ctlg | rs730880026 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs730880026(A;A) |
Alt | rs730880026(A;A) |
Reference | Rs730880026(G;G) |
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.220115462C>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000157035.3, |