rs748618094
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs748618094(A;A) |
Make rs748618094(A;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 5 |
Position | 13841058 |
Gene | DNAH5 |
is a | snp |
is | mentioned by |
dbSNP | rs748618094 |
dbSNP (classic) | rs748618094 |
ClinGen | rs748618094 |
ebi | rs748618094 |
HLI | rs748618094 |
Exac | rs748618094 |
Gnomad | rs748618094 |
Varsome | rs748618094 |
LitVar | rs748618094 |
Map | rs748618094 |
PheGenI | rs748618094 |
Biobank | rs748618094 |
1000 genomes | rs748618094 |
hgdp | rs748618094 |
ensembl | rs748618094 |
geneview | rs748618094 |
scholar | rs748618094 |
rs748618094 | |
pharmgkb | rs748618094 |
gwascentral | rs748618094 |
openSNP | rs748618094 |
23andMe | rs748618094 |
SNPshot | rs748618094 |
SNPdbe | rs748618094 |
MSV3d | rs748618094 |
GWAS Ctlg | rs748618094 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs748618094(A;A) |
Alt | rs748618094(A;A) |
Reference | Rs748618094(T;T) |
Significance | Pathogenic |
Disease | Primary ciliary dyskinesia |
Variation | info |
Gene | DNAH5 |
CLNDBN | Primary ciliary dyskinesia |
Reversed | 0 |
HGVS | NC_000005.9:g.13841167T>A |
CLNSRC | |
CLNACC | RCV000203745.1, |