rs786204176
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs786204176(A;A) |
Make rs786204176(A;C) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 15 |
Position | 44615524 |
Gene | SPG11 |
is a | snp |
is | mentioned by |
dbSNP | rs786204176 |
dbSNP (classic) | rs786204176 |
ClinGen | rs786204176 |
ebi | rs786204176 |
HLI | rs786204176 |
Exac | rs786204176 |
Gnomad | rs786204176 |
Varsome | rs786204176 |
LitVar | rs786204176 |
Map | rs786204176 |
PheGenI | rs786204176 |
Biobank | rs786204176 |
1000 genomes | rs786204176 |
hgdp | rs786204176 |
ensembl | rs786204176 |
geneview | rs786204176 |
scholar | rs786204176 |
rs786204176 | |
pharmgkb | rs786204176 |
gwascentral | rs786204176 |
openSNP | rs786204176 |
23andMe | rs786204176 |
SNPshot | rs786204176 |
SNPdbe | rs786204176 |
MSV3d | rs786204176 |
GWAS Ctlg | rs786204176 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs786204176(A;A) |
Alt | rs786204176(A;A) |
Reference | Rs786204176(C;C) |
Significance | Pathogenic |
Disease | Spastic paraplegia 11 not provided |
Variation | info |
Gene | SPG11 |
CLNDBN | Spastic paraplegia 11, autosomal recessive not provided |
Reversed | 1 |
HGVS | NC_000015.9:g.44907722G>T |
CLNSRC | |
CLNACC | RCV000168213.1, RCV000171235.1, |