rs869025593
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs869025593(A;C) |
Make rs869025593(C;C) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | X |
Position | 107647731 |
Gene | PRPS1 |
is a | snp |
is | mentioned by |
dbSNP | rs869025593 |
dbSNP (classic) | rs869025593 |
ClinGen | rs869025593 |
ebi | rs869025593 |
HLI | rs869025593 |
Exac | rs869025593 |
Gnomad | rs869025593 |
Varsome | rs869025593 |
LitVar | rs869025593 |
Map | rs869025593 |
PheGenI | rs869025593 |
Biobank | rs869025593 |
1000 genomes | rs869025593 |
hgdp | rs869025593 |
ensembl | rs869025593 |
geneview | rs869025593 |
scholar | rs869025593 |
rs869025593 | |
pharmgkb | rs869025593 |
gwascentral | rs869025593 |
openSNP | rs869025593 |
23andMe | rs869025593 |
SNPshot | rs869025593 |
SNPdbe | rs869025593 |
MSV3d | rs869025593 |
GWAS Ctlg | rs869025593 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs869025593(C;C) |
Alt | rs869025593(C;C) |
Reference | Rs869025593(A;A) |
Significance | Pathogenic |
Disease | Deafness Arts syndrome |
Variation | info |
Gene | PRPS1 |
CLNDBN | Deafness, X-linked 1 Arts syndrome |
Reversed | 0 |
HGVS | NC_000023.10:g.106890961A>C |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000208721.1, RCV000208743.1, |