rs762081081
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs762081081(-;T) |
Make rs762081081(T;T) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 5 |
Position | 13876788 |
Gene | DNAH5 |
is a | snp |
is | mentioned by |
dbSNP | rs762081081 |
dbSNP (classic) | rs762081081 |
ClinGen | rs762081081 |
ebi | rs762081081 |
HLI | rs762081081 |
Exac | rs762081081 |
Gnomad | rs762081081 |
Varsome | rs762081081 |
LitVar | rs762081081 |
Map | rs762081081 |
PheGenI | rs762081081 |
Biobank | rs762081081 |
1000 genomes | rs762081081 |
hgdp | rs762081081 |
ensembl | rs762081081 |
geneview | rs762081081 |
scholar | rs762081081 |
rs762081081 | |
pharmgkb | rs762081081 |
gwascentral | rs762081081 |
openSNP | rs762081081 |
23andMe | rs762081081 |
SNPshot | rs762081081 |
SNPdbe | rs762081081 |
MSV3d | rs762081081 |
GWAS Ctlg | rs762081081 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs762081081(T;T) |
Alt | rs762081081(T;T) |
Reference | Rs762081081(-;-) |
Significance | Pathogenic |
Disease | Primary ciliary dyskinesia |
Variation | info |
Gene | DNAH5 |
CLNDBN | Primary ciliary dyskinesia |
Reversed | 0 |
HGVS | NC_000005.9:g.13876898dupT |
CLNSRC | |
CLNACC | RCV000234255.1, |