rs200913791
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs200913791(A;G) |
Make rs200913791(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 3 |
Position | 50342473 |
Gene | RASSF1, ZMYND10 |
is a | snp |
is | mentioned by |
dbSNP | rs200913791 |
dbSNP (classic) | rs200913791 |
ClinGen | rs200913791 |
ebi | rs200913791 |
HLI | rs200913791 |
Exac | rs200913791 |
Gnomad | rs200913791 |
Varsome | rs200913791 |
LitVar | rs200913791 |
Map | rs200913791 |
PheGenI | rs200913791 |
Biobank | rs200913791 |
1000 genomes | rs200913791 |
hgdp | rs200913791 |
ensembl | rs200913791 |
geneview | rs200913791 |
scholar | rs200913791 |
rs200913791 | |
pharmgkb | rs200913791 |
gwascentral | rs200913791 |
openSNP | rs200913791 |
23andMe | rs200913791 |
SNPshot | rs200913791 |
SNPdbe | rs200913791 |
MSV3d | rs200913791 |
GWAS Ctlg | rs200913791 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs200913791(G;G) |
Alt | rs200913791(G;G) |
Reference | Rs200913791(A;A) |
Significance | Pathogenic |
Disease | Ciliary dyskinesia Kartagener syndrome Primary ciliary dyskinesia |
Variation | info |
Gene | ZMYND10 RASSF1 |
CLNDBN | Ciliary dyskinesia, primary, 22 Kartagener syndrome Primary ciliary dyskinesia |
Reversed | 0 |
HGVS | NC_000003.11:g.50379904A>G |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000056269.3, RCV000190920.1, RCV000468778.1, |