rs587777719
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(AG;AG) | 0 | common in clinvar |
Make rs587777719(-;-) |
Make rs587777719(-;AG) |
Reference | GRCh38 38.1/142 |
Chromosome | 4 |
Position | 174517984 |
Gene | HPGD |
is a | snp |
is | mentioned by |
dbSNP | rs587777719 |
dbSNP (classic) | rs587777719 |
ClinGen | rs587777719 |
ebi | rs587777719 |
HLI | rs587777719 |
Exac | rs587777719 |
Gnomad | rs587777719 |
Varsome | rs587777719 |
LitVar | rs587777719 |
Map | rs587777719 |
PheGenI | rs587777719 |
Biobank | rs587777719 |
1000 genomes | rs587777719 |
hgdp | rs587777719 |
ensembl | rs587777719 |
geneview | rs587777719 |
scholar | rs587777719 |
rs587777719 | |
pharmgkb | rs587777719 |
gwascentral | rs587777719 |
openSNP | rs587777719 |
23andMe | rs587777719 |
SNPshot | rs587777719 |
SNPdbe | rs587777719 |
MSV3d | rs587777719 |
GWAS Ctlg | rs587777719 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs587777719(-;-) |
Alt | rs587777719(-;-) |
Reference | Rs587777719(AG;AG) |
Significance | Pathogenic |
Disease | Pachydermoperiostosis syndrome |
Variation | info |
Gene | HPGD |
CLNDBN | Pachydermoperiostosis syndrome |
Reversed | 0 |
HGVS | NC_000004.11:g.175439135_175439136delAG |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000144086.4, |