rs1060502229
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs1060502229(-;-) |
Make rs1060502229(-;A) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 2 |
Position | 32064241 |
Gene | SPAST |
is a | snp |
is | mentioned by |
dbSNP | rs1060502229 |
dbSNP (classic) | rs1060502229 |
ClinGen | rs1060502229 |
ebi | rs1060502229 |
HLI | rs1060502229 |
Exac | rs1060502229 |
Gnomad | rs1060502229 |
Varsome | rs1060502229 |
LitVar | rs1060502229 |
Map | rs1060502229 |
PheGenI | rs1060502229 |
Biobank | rs1060502229 |
1000 genomes | rs1060502229 |
hgdp | rs1060502229 |
ensembl | rs1060502229 |
geneview | rs1060502229 |
scholar | rs1060502229 |
rs1060502229 | |
pharmgkb | rs1060502229 |
gwascentral | rs1060502229 |
openSNP | rs1060502229 |
23andMe | rs1060502229 |
SNPshot | rs1060502229 |
SNPdbe | rs1060502229 |
MSV3d | rs1060502229 |
GWAS Ctlg | rs1060502229 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1060502229(-;-) |
Alt | rs1060502229(-;-) |
Reference | Rs1060502229(A;A) |
Significance | Pathogenic |
Disease | Spastic paraplegia 4 |
Variation | info |
Gene | SPAST |
CLNDBN | Spastic paraplegia 4, autosomal dominant |
Reversed | 0 |
HGVS | NC_000002.11:g.32289310delA |
CLNSRC | |
CLNACC | RCV000477009.1, |