rs312262725
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs312262725(-;A) |
Make rs312262725(A;A) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 15 |
Position | 44651598 |
Gene | SPG11 |
is a | snp |
is | mentioned by |
dbSNP | rs312262725 |
dbSNP (classic) | rs312262725 |
ClinGen | rs312262725 |
ebi | rs312262725 |
HLI | rs312262725 |
Exac | rs312262725 |
Gnomad | rs312262725 |
Varsome | rs312262725 |
LitVar | rs312262725 |
Map | rs312262725 |
PheGenI | rs312262725 |
Biobank | rs312262725 |
1000 genomes | rs312262725 |
hgdp | rs312262725 |
ensembl | rs312262725 |
geneview | rs312262725 |
scholar | rs312262725 |
rs312262725 | |
pharmgkb | rs312262725 |
gwascentral | rs312262725 |
openSNP | rs312262725 |
23andMe | rs312262725 |
SNPshot | rs312262725 |
SNPdbe | rs312262725 |
MSV3d | rs312262725 |
GWAS Ctlg | rs312262725 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs312262725(A;A) |
Alt | rs312262725(A;A) |
Reference | Rs312262725(-;-) |
Significance | Pathogenic |
Disease | Spastic paraplegia 11 |
Variation | info |
Gene | SPG11 |
CLNDBN | Spastic paraplegia 11, autosomal recessive |
Reversed | 1 |
HGVS | NC_000015.9:g.44943797dupT |
CLNSRC | |
CLNACC | RCV000227208.1, |