rs140494585
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs140494585(A;A) |
Make rs140494585(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 19 |
Position | 45489487 |
Gene | RTN2 |
is a | snp |
is | mentioned by |
dbSNP | rs140494585 |
dbSNP (classic) | rs140494585 |
ClinGen | rs140494585 |
ebi | rs140494585 |
HLI | rs140494585 |
Exac | rs140494585 |
Gnomad | rs140494585 |
Varsome | rs140494585 |
LitVar | rs140494585 |
Map | rs140494585 |
PheGenI | rs140494585 |
Biobank | rs140494585 |
1000 genomes | rs140494585 |
hgdp | rs140494585 |
ensembl | rs140494585 |
geneview | rs140494585 |
scholar | rs140494585 |
rs140494585 | |
pharmgkb | rs140494585 |
gwascentral | rs140494585 |
openSNP | rs140494585 |
23andMe | rs140494585 |
SNPshot | rs140494585 |
SNPdbe | rs140494585 |
MSV3d | rs140494585 |
GWAS Ctlg | rs140494585 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs140494585(A;A) |
Alt | rs140494585(A;A) |
Reference | Rs140494585(G;G) |
Significance | Pathogenic |
Disease | Spastic paraplegia 12 |
Variation | info |
Gene | RTN2 |
CLNDBN | Spastic paraplegia 12 |
Reversed | 0 |
HGVS | NC_000019.9:g.45992745G>A |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000023261.3, |