rs797045086
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs797045086(-;TTG) |
Make rs797045086(TTG;TTG) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 7 |
Position | 21735707 |
Gene | DNAH11 |
is a | snp |
is | mentioned by |
dbSNP | rs797045086 |
dbSNP (classic) | rs797045086 |
ClinGen | rs797045086 |
ebi | rs797045086 |
HLI | rs797045086 |
Exac | rs797045086 |
Gnomad | rs797045086 |
Varsome | rs797045086 |
LitVar | rs797045086 |
Map | rs797045086 |
PheGenI | rs797045086 |
Biobank | rs797045086 |
1000 genomes | rs797045086 |
hgdp | rs797045086 |
ensembl | rs797045086 |
geneview | rs797045086 |
scholar | rs797045086 |
rs797045086 | |
pharmgkb | rs797045086 |
gwascentral | rs797045086 |
openSNP | rs797045086 |
23andMe | rs797045086 |
SNPshot | rs797045086 |
SNPdbe | rs797045086 |
MSV3d | rs797045086 |
GWAS Ctlg | rs797045086 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs797045086(GTT;GTT) |
Alt | rs797045086(GTT;GTT) |
Reference | Rs797045086(-;-) |
Significance | Pathogenic |
Disease | Ciliary dyskinesia |
Variation | info |
Gene | DNAH11 |
CLNDBN | Ciliary dyskinesia, primary, 7 |
Reversed | 0 |
HGVS | NC_000007.13:g.21775325_21775326insTTG |
CLNSRC | |
CLNACC | RCV000190578.1, |