rs587781262
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs587781262(A;G) |
Make rs587781262(G;G) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | X |
Position | 107640938 |
Gene | PRPS1 |
is a | snp |
is | mentioned by |
dbSNP | rs587781262 |
dbSNP (classic) | rs587781262 |
ClinGen | rs587781262 |
ebi | rs587781262 |
HLI | rs587781262 |
Exac | rs587781262 |
Gnomad | rs587781262 |
Varsome | rs587781262 |
LitVar | rs587781262 |
Map | rs587781262 |
PheGenI | rs587781262 |
Biobank | rs587781262 |
1000 genomes | rs587781262 |
hgdp | rs587781262 |
ensembl | rs587781262 |
geneview | rs587781262 |
scholar | rs587781262 |
rs587781262 | |
pharmgkb | rs587781262 |
gwascentral | rs587781262 |
openSNP | rs587781262 |
23andMe | rs587781262 |
SNPshot | rs587781262 |
SNPdbe | rs587781262 |
MSV3d | rs587781262 |
GWAS Ctlg | rs587781262 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs587781262(G;G) |
Alt | rs587781262(G;G) |
Reference | Rs587781262(A;A) |
Significance | Pathogenic |
Disease | Deafness Charcot-Marie-Tooth disease |
Variation | info |
Gene | PRPS1 |
CLNDBN | Deafness, X-linked 1 Charcot-Marie-Tooth disease, X-linked recessive, type 5 |
Reversed | 0 |
HGVS | NC_000023.10:g.106884168A>G |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000143858.1, RCV000143859.3, |