rs757130394
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs757130394(A;A) |
Make rs757130394(A;C) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 2 |
Position | 32137112 |
Gene | SPAST |
is a | snp |
is | mentioned by |
dbSNP | rs757130394 |
dbSNP (classic) | rs757130394 |
ClinGen | rs757130394 |
ebi | rs757130394 |
HLI | rs757130394 |
Exac | rs757130394 |
Gnomad | rs757130394 |
Varsome | rs757130394 |
LitVar | rs757130394 |
Map | rs757130394 |
PheGenI | rs757130394 |
Biobank | rs757130394 |
1000 genomes | rs757130394 |
hgdp | rs757130394 |
ensembl | rs757130394 |
geneview | rs757130394 |
scholar | rs757130394 |
rs757130394 | |
pharmgkb | rs757130394 |
gwascentral | rs757130394 |
openSNP | rs757130394 |
23andMe | rs757130394 |
SNPshot | rs757130394 |
SNPdbe | rs757130394 |
MSV3d | rs757130394 |
GWAS Ctlg | rs757130394 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs757130394(A;A) rs757130394(T;T) |
Alt | rs757130394(A;A) rs757130394(T;T) |
Reference | Rs757130394(C;C) |
Significance | Pathogenic |
Disease | Spastic paraplegia 4 |
Variation | info |
Gene | SPAST |
CLNDBN | Spastic paraplegia 4, autosomal dominant |
Reversed | 0 |
HGVS | NC_000002.11:g.32362181C>T |
CLNSRC | |
CLNACC | RCV000197545.1, |