rs587776676
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(GGTCTACAAC;GGTCTACAAC) | 0 | common in clinvar |
Make rs587776676(GGTCTACAAC;TG) |
Make rs587776676(TG;TG) |
Reference | GRCh38 38.1/142 |
Chromosome | 4 |
Position | 174518054 |
Gene | HPGD |
is a | snp |
is | mentioned by |
dbSNP | rs587776676 |
dbSNP (classic) | rs587776676 |
ClinGen | rs587776676 |
ebi | rs587776676 |
HLI | rs587776676 |
Exac | rs587776676 |
Gnomad | rs587776676 |
Varsome | rs587776676 |
LitVar | rs587776676 |
Map | rs587776676 |
PheGenI | rs587776676 |
Biobank | rs587776676 |
1000 genomes | rs587776676 |
hgdp | rs587776676 |
ensembl | rs587776676 |
geneview | rs587776676 |
scholar | rs587776676 |
rs587776676 | |
pharmgkb | rs587776676 |
gwascentral | rs587776676 |
openSNP | rs587776676 |
23andMe | rs587776676 |
SNPshot | rs587776676 |
SNPdbe | rs587776676 |
MSV3d | rs587776676 |
GWAS Ctlg | rs587776676 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs587776676(TG;TG) |
Alt | rs587776676(TG;TG) |
Reference | Rs587776676(GGTCTACAAC;GGTCTACAAC) |
Significance | Pathogenic |
Disease | Pachydermoperiostosis syndrome |
Variation | info |
Gene | HPGD |
CLNDBN | Pachydermoperiostosis syndrome |
Reversed | 0 |
HGVS | NC_000004.11:g.175439205_175439214delGGTCTACAACinsTG |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000008380.4, |