rs587777525
From SNPedia
Orientation | plus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs587777525(-;-) |
Make rs587777525(-;G) |
Reference | GRCh38 38.1/142 |
Chromosome | 20 |
Position | 50891906 |
Gene | ADNP |
is a | snp |
is | mentioned by |
dbSNP | rs587777525 |
dbSNP (classic) | rs587777525 |
ClinGen | rs587777525 |
ebi | rs587777525 |
HLI | rs587777525 |
Exac | rs587777525 |
Gnomad | rs587777525 |
Varsome | rs587777525 |
LitVar | rs587777525 |
Map | rs587777525 |
PheGenI | rs587777525 |
Biobank | rs587777525 |
1000 genomes | rs587777525 |
hgdp | rs587777525 |
ensembl | rs587777525 |
geneview | rs587777525 |
scholar | rs587777525 |
rs587777525 | |
pharmgkb | rs587777525 |
gwascentral | rs587777525 |
openSNP | rs587777525 |
23andMe | rs587777525 |
SNPshot | rs587777525 |
SNPdbe | rs587777525 |
MSV3d | rs587777525 |
GWAS Ctlg | rs587777525 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | Rs587777525(G;G) rs587777525(-;-) |
Alt | Rs587777525(G;G) rs587777525(-;-) |
Reference | Rs587777525(C;C) |
Significance | Pathogenic |
Disease | Helsmoortel-van der aa syndrome |
Variation | info |
Gene | ADNP |
CLNDBN | Helsmoortel-van der aa syndrome |
Reversed | 1 |
HGVS | NC_000020.10:g.49508443delG |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000128577.5, |