rs370706991
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs370706991(G;T) |
Make rs370706991(T;T) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 17 |
Position | 80089763 |
Gene | CCDC40 |
is a | snp |
is | mentioned by |
dbSNP | rs370706991 |
dbSNP (classic) | rs370706991 |
ClinGen | rs370706991 |
ebi | rs370706991 |
HLI | rs370706991 |
Exac | rs370706991 |
Gnomad | rs370706991 |
Varsome | rs370706991 |
LitVar | rs370706991 |
Map | rs370706991 |
PheGenI | rs370706991 |
Biobank | rs370706991 |
1000 genomes | rs370706991 |
hgdp | rs370706991 |
ensembl | rs370706991 |
geneview | rs370706991 |
scholar | rs370706991 |
rs370706991 | |
pharmgkb | rs370706991 |
gwascentral | rs370706991 |
openSNP | rs370706991 |
23andMe | rs370706991 |
SNPshot | rs370706991 |
SNPdbe | rs370706991 |
MSV3d | rs370706991 |
GWAS Ctlg | rs370706991 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs370706991(T;T) |
Alt | rs370706991(T;T) |
Reference | Rs370706991(G;G) |
Significance | Pathogenic |
Disease | Primary ciliary dyskinesia |
Variation | info |
Gene | CCDC40 |
CLNDBN | Primary ciliary dyskinesia |
Reversed | 0 |
HGVS | NC_000017.10:g.78063562G>T |
CLNSRC | |
CLNACC | RCV000465864.1, |