rs398122365
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs398122365(C;T) |
Make rs398122365(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 12 |
Position | 123256945 |
Gene | C12orf65 |
is a | snp |
is | mentioned by |
dbSNP | rs398122365 |
dbSNP (classic) | rs398122365 |
ClinGen | rs398122365 |
ebi | rs398122365 |
HLI | rs398122365 |
Exac | rs398122365 |
Gnomad | rs398122365 |
Varsome | rs398122365 |
LitVar | rs398122365 |
Map | rs398122365 |
PheGenI | rs398122365 |
Biobank | rs398122365 |
1000 genomes | rs398122365 |
hgdp | rs398122365 |
ensembl | rs398122365 |
geneview | rs398122365 |
scholar | rs398122365 |
rs398122365 | |
pharmgkb | rs398122365 |
gwascentral | rs398122365 |
openSNP | rs398122365 |
23andMe | rs398122365 |
SNPshot | rs398122365 |
SNPdbe | rs398122365 |
MSV3d | rs398122365 |
GWAS Ctlg | rs398122365 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs398122365(T;T) |
Alt | rs398122365(T;T) |
Reference | Rs398122365(C;C) |
Significance | Pathogenic |
Disease | Spastic paraplegia 55 |
Variation | info |
Gene | C12orf65 |
CLNDBN | Spastic paraplegia 55, autosomal recessive |
Reversed | 0 |
HGVS | NC_000012.11:g.123741492C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000074452.3, |