rs759059925
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs759059925(A;A) |
Make rs759059925(A;C) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 5 |
Position | 13922208 |
Gene | DNAH5 |
is a | snp |
is | mentioned by |
dbSNP | rs759059925 |
dbSNP (classic) | rs759059925 |
ClinGen | rs759059925 |
ebi | rs759059925 |
HLI | rs759059925 |
Exac | rs759059925 |
Gnomad | rs759059925 |
Varsome | rs759059925 |
LitVar | rs759059925 |
Map | rs759059925 |
PheGenI | rs759059925 |
Biobank | rs759059925 |
1000 genomes | rs759059925 |
hgdp | rs759059925 |
ensembl | rs759059925 |
geneview | rs759059925 |
scholar | rs759059925 |
rs759059925 | |
pharmgkb | rs759059925 |
gwascentral | rs759059925 |
openSNP | rs759059925 |
23andMe | rs759059925 |
SNPshot | rs759059925 |
SNPdbe | rs759059925 |
MSV3d | rs759059925 |
GWAS Ctlg | rs759059925 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs759059925(A;A) rs759059925(T;T) |
Alt | rs759059925(A;A) rs759059925(T;T) |
Reference | Rs759059925(C;C) |
Significance | Pathogenic |
Disease | Primary ciliary dyskinesia |
Variation | info |
Gene | DNAH5 |
CLNDBN | Primary ciliary dyskinesia |
Reversed | 0 |
HGVS | NC_000005.9:g.13922317C>A |
CLNSRC | |
CLNACC | RCV000465113.1, |