rs397518454
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs397518454(A;G) |
Make rs397518454(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 12 |
Position | 54283860 |
Gene | HNRNPA1 |
is a | snp |
is | mentioned by |
dbSNP | rs397518454 |
dbSNP (classic) | rs397518454 |
ClinGen | rs397518454 |
ebi | rs397518454 |
HLI | rs397518454 |
Exac | rs397518454 |
Gnomad | rs397518454 |
Varsome | rs397518454 |
LitVar | rs397518454 |
Map | rs397518454 |
PheGenI | rs397518454 |
Biobank | rs397518454 |
1000 genomes | rs397518454 |
hgdp | rs397518454 |
ensembl | rs397518454 |
geneview | rs397518454 |
scholar | rs397518454 |
rs397518454 | |
pharmgkb | rs397518454 |
gwascentral | rs397518454 |
openSNP | rs397518454 |
23andMe | rs397518454 |
SNPshot | rs397518454 |
SNPdbe | rs397518454 |
MSV3d | rs397518454 |
GWAS Ctlg | rs397518454 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs397518454(G;G) |
Alt | rs397518454(G;G) |
Reference | Rs397518454(A;A) |
Significance | Pathogenic |
Disease | Amyotrophic lateral sclerosis 20 |
Variation | info |
Gene | HNRNPA1 |
CLNDBN | Amyotrophic lateral sclerosis 20 |
Reversed | 0 |
HGVS | NC_000012.11:g.54677644A>G |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000055651.22, |