rs573642949
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs573642949(G;T) |
Make rs573642949(T;T) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 2 |
Position | 32063958 |
Gene | SPAST |
is a | snp |
is | mentioned by |
dbSNP | rs573642949 |
dbSNP (classic) | rs573642949 |
ClinGen | rs573642949 |
ebi | rs573642949 |
HLI | rs573642949 |
Exac | rs573642949 |
Gnomad | rs573642949 |
Varsome | rs573642949 |
LitVar | rs573642949 |
Map | rs573642949 |
PheGenI | rs573642949 |
Biobank | rs573642949 |
1000 genomes | rs573642949 |
hgdp | rs573642949 |
ensembl | rs573642949 |
geneview | rs573642949 |
scholar | rs573642949 |
rs573642949 | |
pharmgkb | rs573642949 |
gwascentral | rs573642949 |
openSNP | rs573642949 |
23andMe | rs573642949 |
SNPshot | rs573642949 |
SNPdbe | rs573642949 |
MSV3d | rs573642949 |
GWAS Ctlg | rs573642949 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs573642949(C;C) rs573642949(T;T) |
Alt | rs573642949(C;C) rs573642949(T;T) |
Reference | Rs573642949(G;G) |
Significance | Pathogenic |
Disease | Spastic paraplegia 4 |
Variation | info |
Gene | SPAST |
CLNDBN | Spastic paraplegia 4, autosomal dominant |
Reversed | 0 |
HGVS | NC_000002.11:g.32289027G>T |
CLNSRC | |
CLNACC | RCV000461473.1, |