rs587777150
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs587777150(C;G) |
Make rs587777150(G;G) |
Reference | GRCh38 38.1/142 |
Chromosome | X |
Position | 107640957 |
Gene | PRPS1 |
is a | snp |
is | mentioned by |
dbSNP | rs587777150 |
dbSNP (classic) | rs587777150 |
ClinGen | rs587777150 |
ebi | rs587777150 |
HLI | rs587777150 |
Exac | rs587777150 |
Gnomad | rs587777150 |
Varsome | rs587777150 |
LitVar | rs587777150 |
Map | rs587777150 |
PheGenI | rs587777150 |
Biobank | rs587777150 |
1000 genomes | rs587777150 |
hgdp | rs587777150 |
ensembl | rs587777150 |
geneview | rs587777150 |
scholar | rs587777150 |
rs587777150 | |
pharmgkb | rs587777150 |
gwascentral | rs587777150 |
openSNP | rs587777150 |
23andMe | rs587777150 |
SNPshot | rs587777150 |
SNPdbe | rs587777150 |
MSV3d | rs587777150 |
GWAS Ctlg | rs587777150 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs587777150(G;G) |
Alt | rs587777150(G;G) |
Reference | Rs587777150(C;C) |
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.106884187C>G |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000087131.5, |