rs863225439
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs863225439(-;G) |
Make rs863225439(G;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 15 |
Position | 44567545 |
Gene | SPG11 |
is a | snp |
is | mentioned by |
dbSNP | rs863225439 |
dbSNP (classic) | rs863225439 |
ClinGen | rs863225439 |
ebi | rs863225439 |
HLI | rs863225439 |
Exac | rs863225439 |
Gnomad | rs863225439 |
Varsome | rs863225439 |
LitVar | rs863225439 |
Map | rs863225439 |
PheGenI | rs863225439 |
Biobank | rs863225439 |
1000 genomes | rs863225439 |
hgdp | rs863225439 |
ensembl | rs863225439 |
geneview | rs863225439 |
scholar | rs863225439 |
rs863225439 | |
pharmgkb | rs863225439 |
gwascentral | rs863225439 |
openSNP | rs863225439 |
23andMe | rs863225439 |
SNPshot | rs863225439 |
SNPdbe | rs863225439 |
MSV3d | rs863225439 |
GWAS Ctlg | rs863225439 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs863225439(G;G) |
Alt | rs863225439(G;G) |
Reference | Rs863225439(-;-) |
Significance | Pathogenic |
Disease | Charcot-Marie-Tooth disease |
Variation | info |
Gene | SPG11 |
CLNDBN | Charcot-Marie-Tooth disease, axonal type 2X |
Reversed | 1 |
HGVS | NC_000015.9:g.44859744dupC |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000202374.2, |