rs747481280
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs747481280(G;G) |
Make rs747481280(G;T) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 10 |
Position | 13132068 |
Gene | OPTN |
is a | snp |
is | mentioned by |
dbSNP | rs747481280 |
dbSNP (classic) | rs747481280 |
ClinGen | rs747481280 |
ebi | rs747481280 |
HLI | rs747481280 |
Exac | rs747481280 |
Gnomad | rs747481280 |
Varsome | rs747481280 |
LitVar | rs747481280 |
Map | rs747481280 |
PheGenI | rs747481280 |
Biobank | rs747481280 |
1000 genomes | rs747481280 |
hgdp | rs747481280 |
ensembl | rs747481280 |
geneview | rs747481280 |
scholar | rs747481280 |
rs747481280 | |
pharmgkb | rs747481280 |
gwascentral | rs747481280 |
openSNP | rs747481280 |
23andMe | rs747481280 |
SNPshot | rs747481280 |
SNPdbe | rs747481280 |
MSV3d | rs747481280 |
GWAS Ctlg | rs747481280 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs747481280(G;G) |
Alt | rs747481280(G;G) |
Reference | Rs747481280(T;T) |
Significance | Probable-Pathogenic |
Disease | Motor neuron disease |
Variation | info |
Gene | OPTN |
CLNDBN | Motor neuron disease |
Reversed | 0 |
HGVS | NC_000010.10:g.13174068T>G |
CLNSRC | |
CLNACC | RCV000492219.1, |