rs587784302
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(GAGCAGACTTT;GAGCAGACTTT) | 0 | common in clinvar |
Make rs587784302(-;-) |
Make rs587784302(-;CAGACTTTGAG) |
Make rs587784302(CAGACTTTGAG;CAGACTTTGAG) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 21 |
Position | 46366958 |
Gene | PCNT |
is a | snp |
is | mentioned by |
dbSNP | rs587784302 |
dbSNP (classic) | rs587784302 |
ClinGen | rs587784302 |
ebi | rs587784302 |
HLI | rs587784302 |
Exac | rs587784302 |
Gnomad | rs587784302 |
Varsome | rs587784302 |
LitVar | rs587784302 |
Map | rs587784302 |
PheGenI | rs587784302 |
Biobank | rs587784302 |
1000 genomes | rs587784302 |
hgdp | rs587784302 |
ensembl | rs587784302 |
geneview | rs587784302 |
scholar | rs587784302 |
rs587784302 | |
pharmgkb | rs587784302 |
gwascentral | rs587784302 |
openSNP | rs587784302 |
23andMe | rs587784302 |
SNPshot | rs587784302 |
SNPdbe | rs587784302 |
MSV3d | rs587784302 |
GWAS Ctlg | rs587784302 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs587784302(-;-) |
Alt | rs587784302(-;-) |
Reference | Rs587784302(GAGCAGACTTT;GAGCAGACTTT) |
Significance | Pathogenic |
Disease | Microcephalic osteodysplastic primordial dwarfism type 2 not provided |
Variation | info |
Gene | PCNT |
CLNDBN | Microcephalic osteodysplastic primordial dwarfism type 2 not provided |
Reversed | 0 |
HGVS | NC_000021.8:g.47786873_47786883delCAGACTTTGAG |
CLNSRC | |
CLNACC | RCV000147105.2, RCV000296415.1, |