rs864622194
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs864622194(C;C) |
Make rs864622194(C;T) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | X |
Position | 103776997 |
Gene | PLP1 |
is a | snp |
is | mentioned by |
dbSNP | rs864622194 |
dbSNP (classic) | rs864622194 |
ClinGen | rs864622194 |
ebi | rs864622194 |
HLI | rs864622194 |
Exac | rs864622194 |
Gnomad | rs864622194 |
Varsome | rs864622194 |
LitVar | rs864622194 |
Map | rs864622194 |
PheGenI | rs864622194 |
Biobank | rs864622194 |
1000 genomes | rs864622194 |
hgdp | rs864622194 |
ensembl | rs864622194 |
geneview | rs864622194 |
scholar | rs864622194 |
rs864622194 | |
pharmgkb | rs864622194 |
gwascentral | rs864622194 |
openSNP | rs864622194 |
23andMe | rs864622194 |
SNPshot | rs864622194 |
SNPdbe | rs864622194 |
MSV3d | rs864622194 |
GWAS Ctlg | rs864622194 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs864622194(C;C) |
Alt | rs864622194(C;C) |
Reference | Rs864622194(T;T) |
Significance | Pathogenic |
Disease | Spastic paraplegia 2 |
Variation | info |
Gene | PLP1 |
CLNDBN | Spastic paraplegia 2 |
Reversed | 0 |
HGVS | NC_000023.10:g.103031925T>C |
CLNSRC | |
CLNACC | RCV000203805.1, |