rs267606831
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 6 | Amyotrophic lateral sclerosis type 6 |
(A;G) | 2 | carrier of Amyotrophic lateral sclerosis type 6 |
(G;G) | 0 | common in clinvar |
Reference | GRCh38 38.1/141 |
Chromosome | 16 |
Position | 31191089 |
Gene | FUS |
is a | snp |
is | mentioned by |
dbSNP | rs267606831 |
dbSNP (classic) | rs267606831 |
ClinGen | rs267606831 |
ebi | rs267606831 |
HLI | rs267606831 |
Exac | rs267606831 |
Gnomad | rs267606831 |
Varsome | rs267606831 |
LitVar | rs267606831 |
Map | rs267606831 |
PheGenI | rs267606831 |
Biobank | rs267606831 |
1000 genomes | rs267606831 |
hgdp | rs267606831 |
ensembl | rs267606831 |
geneview | rs267606831 |
scholar | rs267606831 |
rs267606831 | |
pharmgkb | rs267606831 |
gwascentral | rs267606831 |
openSNP | rs267606831 |
23andMe | rs267606831 |
SNPshot | rs267606831 |
SNPdbe | rs267606831 |
MSV3d | rs267606831 |
GWAS Ctlg | rs267606831 |
Max Magnitude | 6 |
ClinVar | |
---|---|
Risk | Rs267606831(A;A) |
Alt | Rs267606831(A;A) |
Reference | Rs267606831(G;G) |
Significance | Pathogenic |
Disease | Amyotrophic lateral sclerosis type 6 |
Variation | info |
Gene | FUS |
CLNDBN | Amyotrophic lateral sclerosis type 6 |
Reversed | 0 |
HGVS | NC_000016.9:g.31202410G>A |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000017613.24, |