rs1060503515
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs1060503515(-;-) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 9 |
Position | 34506751 |
Gene | DNAI1 |
is a | snp |
is | mentioned by |
dbSNP | rs1060503515 |
dbSNP (classic) | rs1060503515 |
ClinGen | rs1060503515 |
ebi | rs1060503515 |
HLI | rs1060503515 |
Exac | rs1060503515 |
Gnomad | rs1060503515 |
Varsome | rs1060503515 |
LitVar | rs1060503515 |
Map | rs1060503515 |
PheGenI | rs1060503515 |
Biobank | rs1060503515 |
1000 genomes | rs1060503515 |
hgdp | rs1060503515 |
ensembl | rs1060503515 |
geneview | rs1060503515 |
scholar | rs1060503515 |
rs1060503515 | |
pharmgkb | rs1060503515 |
gwascentral | rs1060503515 |
openSNP | rs1060503515 |
23andMe | rs1060503515 |
SNPshot | rs1060503515 |
SNPdbe | rs1060503515 |
MSV3d | rs1060503515 |
GWAS Ctlg | rs1060503515 |
Max Magnitude | 0 |
aka c.1188delC (p.Tyr397Thrfs)
ClinVar | |
---|---|
Risk | rs1060503515(-;-) |
Alt | rs1060503515(-;-) |
Reference | Rs1060503515(C;C) |
Significance | Pathogenic |
Disease | Primary ciliary dyskinesia |
Variation | info |
Gene | DNAI1 |
CLNDBN | Primary ciliary dyskinesia |
Reversed | 0 |
HGVS | NC_000009.11:g.34506749delC |
CLNSRC | |
CLNACC | RCV000473781.1, |