rs587777017
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs587777017(-;-) |
Make rs587777017(-;A) |
Reference | GRCh38 38.1/142 |
Chromosome | 7 |
Position | 116559224 |
Gene | CAV1 |
is a | snp |
is | mentioned by |
dbSNP | rs587777017 |
dbSNP (classic) | rs587777017 |
ClinGen | rs587777017 |
ebi | rs587777017 |
HLI | rs587777017 |
Exac | rs587777017 |
Gnomad | rs587777017 |
Varsome | rs587777017 |
LitVar | rs587777017 |
Map | rs587777017 |
PheGenI | rs587777017 |
Biobank | rs587777017 |
1000 genomes | rs587777017 |
hgdp | rs587777017 |
ensembl | rs587777017 |
geneview | rs587777017 |
scholar | rs587777017 |
rs587777017 | |
pharmgkb | rs587777017 |
gwascentral | rs587777017 |
openSNP | rs587777017 |
23andMe | rs587777017 |
SNPshot | rs587777017 |
SNPdbe | rs587777017 |
MSV3d | rs587777017 |
GWAS Ctlg | rs587777017 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs587777017(-;-) |
Alt | rs587777017(-;-) |
Reference | Rs587777017(A;A) |
Significance | Pathogenic |
Disease | Primary pulmonary hypertension 3 |
Variation | info |
Gene | CAV1 |
CLNDBN | Primary pulmonary hypertension 3 |
Reversed | 0 |
HGVS | NC_000007.13:g.116199278delA |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000050248.4, |