rs587777921
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(GT;GT) | 0 | common in clinvar |
(I;I) | 0 | common genotype |
(TG;TG) | 0 | common in clinvar |
Make rs587777921(-;-) |
Make rs587777921(-;TG) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 15 |
Position | 44595432 |
Gene | SPG11 |
is a | snp |
is | mentioned by |
dbSNP | rs587777921 |
dbSNP (classic) | rs587777921 |
ClinGen | rs587777921 |
ebi | rs587777921 |
HLI | rs587777921 |
Exac | rs587777921 |
Gnomad | rs587777921 |
Varsome | rs587777921 |
LitVar | rs587777921 |
Map | rs587777921 |
PheGenI | rs587777921 |
Biobank | rs587777921 |
1000 genomes | rs587777921 |
hgdp | rs587777921 |
ensembl | rs587777921 |
geneview | rs587777921 |
scholar | rs587777921 |
rs587777921 | |
pharmgkb | rs587777921 |
gwascentral | rs587777921 |
openSNP | rs587777921 |
23andMe | rs587777921 |
SNPshot | rs587777921 |
SNPdbe | rs587777921 |
MSV3d | rs587777921 |
GWAS Ctlg | rs587777921 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | Rs587777921(GT;GT) rs587777921(-;-) |
Alt | Rs587777921(GT;GT) rs587777921(-;-) |
Reference | Rs587777921(TG;TG) |
Significance | Pathogenic |
Disease | Spastic paraplegia 11 |
Variation | info |
Gene | SPG11 |
CLNDBN | Spastic paraplegia 11, autosomal recessive |
Reversed | 1 |
HGVS | NC_000015.9:g.44887630_44887631delCA |
CLNSRC | |
CLNACC | RCV000034218.2, |