rs879255274
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs879255274(A;A) |
Make rs879255274(A;G) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 15 |
Position | 44622723 |
Gene | SPG11 |
is a | snp |
is | mentioned by |
dbSNP | rs879255274 |
dbSNP (classic) | rs879255274 |
ClinGen | rs879255274 |
ebi | rs879255274 |
HLI | rs879255274 |
Exac | rs879255274 |
Gnomad | rs879255274 |
Varsome | rs879255274 |
LitVar | rs879255274 |
Map | rs879255274 |
PheGenI | rs879255274 |
Biobank | rs879255274 |
1000 genomes | rs879255274 |
hgdp | rs879255274 |
ensembl | rs879255274 |
geneview | rs879255274 |
scholar | rs879255274 |
rs879255274 | |
pharmgkb | rs879255274 |
gwascentral | rs879255274 |
openSNP | rs879255274 |
23andMe | rs879255274 |
SNPshot | rs879255274 |
SNPdbe | rs879255274 |
MSV3d | rs879255274 |
GWAS Ctlg | rs879255274 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs879255274(A;A) |
Alt | rs879255274(A;A) |
Reference | Rs879255274(G;G) |
Significance | Pathogenic |
Disease | Spastic paraplegia 11 |
Variation | info |
Gene | SPG11 |
CLNDBN | Spastic paraplegia 11, autosomal recessive |
Reversed | 1 |
HGVS | NC_000015.9:g.44914921C>T |
CLNSRC | |
CLNACC | RCV000239393.1, |