rs200708870
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs200708870(C;T) |
Make rs200708870(T;T) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 17 |
Position | 74301064 |
Gene | DNAI2 |
is a | snp |
is | mentioned by |
dbSNP | rs200708870 |
dbSNP (classic) | rs200708870 |
ClinGen | rs200708870 |
ebi | rs200708870 |
HLI | rs200708870 |
Exac | rs200708870 |
Gnomad | rs200708870 |
Varsome | rs200708870 |
LitVar | rs200708870 |
Map | rs200708870 |
PheGenI | rs200708870 |
Biobank | rs200708870 |
1000 genomes | rs200708870 |
hgdp | rs200708870 |
ensembl | rs200708870 |
geneview | rs200708870 |
scholar | rs200708870 |
rs200708870 | |
pharmgkb | rs200708870 |
gwascentral | rs200708870 |
openSNP | rs200708870 |
23andMe | rs200708870 |
SNPshot | rs200708870 |
SNPdbe | rs200708870 |
MSV3d | rs200708870 |
GWAS Ctlg | rs200708870 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs200708870(T;T) |
Alt | rs200708870(T;T) |
Reference | Rs200708870(C;C) |
Significance | Pathogenic |
Disease | Primary ciliary dyskinesia |
Variation | info |
Gene | DNAI2 |
CLNDBN | Primary ciliary dyskinesia |
Reversed | 0 |
HGVS | NC_000017.10:g.72297203C>T |
CLNSRC | |
CLNACC | RCV000471217.1, |