rs1085307097
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Chromosome | 15 |
Position | 44620234 |
Gene | SPG11 |
is a | snp |
is | mentioned by |
dbSNP | rs1085307097 |
dbSNP (classic) | rs1085307097 |
ClinGen | rs1085307097 |
ebi | rs1085307097 |
HLI | rs1085307097 |
Exac | rs1085307097 |
Gnomad | rs1085307097 |
Varsome | rs1085307097 |
LitVar | rs1085307097 |
Map | rs1085307097 |
PheGenI | rs1085307097 |
Biobank | rs1085307097 |
1000 genomes | rs1085307097 |
hgdp | rs1085307097 |
ensembl | rs1085307097 |
geneview | rs1085307097 |
scholar | rs1085307097 |
rs1085307097 | |
pharmgkb | rs1085307097 |
gwascentral | rs1085307097 |
openSNP | rs1085307097 |
23andMe | rs1085307097 |
SNPshot | rs1085307097 |
SNPdbe | rs1085307097 |
MSV3d | rs1085307097 |
GWAS Ctlg | rs1085307097 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1085307097(-;-) |
Alt | rs1085307097(-;-) |
Reference | Rs1085307097(C;C) |
Significance | Probable-Pathogenic |
Disease | Spastic paraplegia 11 |
Variation | info |
Gene | SPG11 |
CLNDBN | Spastic paraplegia 11, autosomal recessive |
Reversed | 1 |
HGVS | NC_000015.9:g.44912432delG |
CLNSRC | |
CLNACC | RCV000490287.1, |