rs1530498
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs1530498(A;G) |
Make rs1530498(G;G) |
Reference | GRCh38 38.1/142 |
Chromosome | 5 |
Position | 13902111 |
Gene | DNAH5 |
is a | snp |
is | mentioned by |
dbSNP | rs1530498 |
dbSNP (classic) | rs1530498 |
ClinGen | rs1530498 |
ebi | rs1530498 |
HLI | rs1530498 |
Exac | rs1530498 |
Gnomad | rs1530498 |
Varsome | rs1530498 |
LitVar | rs1530498 |
Map | rs1530498 |
PheGenI | rs1530498 |
Biobank | rs1530498 |
1000 genomes | rs1530498 |
hgdp | rs1530498 |
ensembl | rs1530498 |
geneview | rs1530498 |
scholar | rs1530498 |
rs1530498 | |
pharmgkb | rs1530498 |
gwascentral | rs1530498 |
openSNP | rs1530498 |
23andMe | rs1530498 |
SNPshot | rs1530498 |
SNPdbe | rs1530498 |
MSV3d | rs1530498 |
GWAS Ctlg | rs1530498 |
GMAF | 0.4555 |
Max Magnitude | 0 |
? | (A;A) (A;G) (G;G) | 28 |
---|---|---|
|
ClinVar | |
---|---|
Risk | rs1530498(G;G) |
Alt | rs1530498(G;G) |
Reference | Rs1530498(A;A) |
Significance | Non-pathogenic |
Disease | not specified Primary ciliary dyskinesia |
Variation | info |
Gene | DNAH5 |
CLNDBN | not specified Primary ciliary dyskinesia |
Reversed | 1 |
HGVS | NC_000005.9:g.13902220T>C |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000150488.2, RCV000394892.1, |