rs587777067
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs587777067(A;C) |
Make rs587777067(C;C) |
Reference | GRCh38 38.1/142 |
Chromosome | 1 |
Position | 200650639 |
Gene | DDX59 |
is a | snp |
is | mentioned by |
dbSNP | rs587777067 |
dbSNP (classic) | rs587777067 |
ClinGen | rs587777067 |
ebi | rs587777067 |
HLI | rs587777067 |
Exac | rs587777067 |
Gnomad | rs587777067 |
Varsome | rs587777067 |
LitVar | rs587777067 |
Map | rs587777067 |
PheGenI | rs587777067 |
Biobank | rs587777067 |
1000 genomes | rs587777067 |
hgdp | rs587777067 |
ensembl | rs587777067 |
geneview | rs587777067 |
scholar | rs587777067 |
rs587777067 | |
pharmgkb | rs587777067 |
gwascentral | rs587777067 |
openSNP | rs587777067 |
23andMe | rs587777067 |
SNPshot | rs587777067 |
SNPdbe | rs587777067 |
MSV3d | rs587777067 |
GWAS Ctlg | rs587777067 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs587777067(C;C) rs587777067(T;T) |
Alt | rs587777067(C;C) rs587777067(T;T) |
Reference | Rs587777067(A;A) |
Significance | Pathogenic |
Disease | Orofaciodigital syndrome 5 not provided |
Variation | info |
Gene | DDX59 |
CLNDBN | Orofaciodigital syndrome 5 not provided |
Reversed | 0 |
HGVS | NC_000001.10:g.200619767A>C |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000074347.2, RCV000433647.1, |