rs587777188
From SNPedia
Orientation | plus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
(T;T) | 0 | common in clinvar |
Make rs587777188(A;G) |
Make rs587777188(G;G) |
Reference | GRCh38 38.1/142 |
Chromosome | 5 |
Position | 58975061 |
Gene | PDE4D |
is a | snp |
is | mentioned by |
dbSNP | rs587777188 |
dbSNP (classic) | rs587777188 |
ClinGen | rs587777188 |
ebi | rs587777188 |
HLI | rs587777188 |
Exac | rs587777188 |
Gnomad | rs587777188 |
Varsome | rs587777188 |
LitVar | rs587777188 |
Map | rs587777188 |
PheGenI | rs587777188 |
Biobank | rs587777188 |
1000 genomes | rs587777188 |
hgdp | rs587777188 |
ensembl | rs587777188 |
geneview | rs587777188 |
scholar | rs587777188 |
rs587777188 | |
pharmgkb | rs587777188 |
gwascentral | rs587777188 |
openSNP | rs587777188 |
23andMe | rs587777188 |
SNPshot | rs587777188 |
SNPdbe | rs587777188 |
MSV3d | rs587777188 |
GWAS Ctlg | rs587777188 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | Rs587777188(A;A) rs587777188(G;G) |
Alt | Rs587777188(A;A) rs587777188(G;G) |
Reference | Rs587777188(T;T) |
Significance | Pathogenic |
Disease | Acrodysostosis 2 |
Variation | info |
Gene | PDE4D |
CLNDBN | Acrodysostosis 2, with or without hormone resistance |
Reversed | 1 |
HGVS | NC_000005.9:g.58270888A>G |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000087311.3, |