rs869025594
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs869025594(C;C) |
Make rs869025594(C;T) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | X |
Position | 107628674 |
Gene | PRPS1 |
is a | snp |
is | mentioned by |
dbSNP | rs869025594 |
dbSNP (classic) | rs869025594 |
ClinGen | rs869025594 |
ebi | rs869025594 |
HLI | rs869025594 |
Exac | rs869025594 |
Gnomad | rs869025594 |
Varsome | rs869025594 |
LitVar | rs869025594 |
Map | rs869025594 |
PheGenI | rs869025594 |
Biobank | rs869025594 |
1000 genomes | rs869025594 |
hgdp | rs869025594 |
ensembl | rs869025594 |
geneview | rs869025594 |
scholar | rs869025594 |
rs869025594 | |
pharmgkb | rs869025594 |
gwascentral | rs869025594 |
openSNP | rs869025594 |
23andMe | rs869025594 |
SNPshot | rs869025594 |
SNPdbe | rs869025594 |
MSV3d | rs869025594 |
GWAS Ctlg | rs869025594 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs869025594(C;C) |
Alt | rs869025594(C;C) |
Reference | Rs869025594(T;T) |
Significance | Pathogenic |
Disease | Charcot-Marie-Tooth disease |
Variation | info |
Gene | PRPS1 |
CLNDBN | Charcot-Marie-Tooth disease, X-linked recessive, type 5 |
Reversed | 0 |
HGVS | NC_000023.10:g.106871904T>C |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000208733.2, |