rs1060501173
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs1060501173(C;T) |
Make rs1060501173(T;T) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 15 |
Position | 44584522 |
Gene | SPG11 |
is a | snp |
is | mentioned by |
dbSNP | rs1060501173 |
dbSNP (classic) | rs1060501173 |
ClinGen | rs1060501173 |
ebi | rs1060501173 |
HLI | rs1060501173 |
Exac | rs1060501173 |
Gnomad | rs1060501173 |
Varsome | rs1060501173 |
LitVar | rs1060501173 |
Map | rs1060501173 |
PheGenI | rs1060501173 |
Biobank | rs1060501173 |
1000 genomes | rs1060501173 |
hgdp | rs1060501173 |
ensembl | rs1060501173 |
geneview | rs1060501173 |
scholar | rs1060501173 |
rs1060501173 | |
pharmgkb | rs1060501173 |
gwascentral | rs1060501173 |
openSNP | rs1060501173 |
23andMe | rs1060501173 |
SNPshot | rs1060501173 |
SNPdbe | rs1060501173 |
MSV3d | rs1060501173 |
GWAS Ctlg | rs1060501173 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1060501173(T;T) |
Alt | rs1060501173(T;T) |
Reference | Rs1060501173(C;C) |
Significance | Pathogenic |
Disease | Spastic paraplegia 11 |
Variation | info |
Gene | SPG11 |
CLNDBN | Spastic paraplegia 11, autosomal recessive |
Reversed | 1 |
HGVS | NC_000015.9:g.44876720G>A |
CLNSRC | |
CLNACC | RCV000462168.1, |