rs775696136
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs775696136(-;A) |
Make rs775696136(A;A) |
Reference | GRCh38.p7 38.3/149 |
Chromosome | 5 |
Position | 13701316 |
Gene | DNAH5 |
is a | snp |
is | mentioned by |
dbSNP | rs775696136 |
dbSNP (classic) | rs775696136 |
ClinGen | rs775696136 |
ebi | rs775696136 |
HLI | rs775696136 |
Exac | rs775696136 |
Gnomad | rs775696136 |
Varsome | rs775696136 |
LitVar | rs775696136 |
Map | rs775696136 |
PheGenI | rs775696136 |
Biobank | rs775696136 |
1000 genomes | rs775696136 |
hgdp | rs775696136 |
ensembl | rs775696136 |
geneview | rs775696136 |
scholar | rs775696136 |
rs775696136 | |
pharmgkb | rs775696136 |
gwascentral | rs775696136 |
openSNP | rs775696136 |
23andMe | rs775696136 |
SNPshot | rs775696136 |
SNPdbe | rs775696136 |
MSV3d | rs775696136 |
GWAS Ctlg | rs775696136 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs775696136(A;A) |
Alt | rs775696136(A;A) |
Reference | Rs775696136(-;-) |
Significance | Probable-Pathogenic |
Disease | Primary ciliary dyskinesia |
Variation | info |
Gene | DNAH5 |
CLNDBN | Primary ciliary dyskinesia |
Reversed | 0 |
HGVS | NC_000005.9:g.13701426dupA |
CLNSRC | Illumina |
CLNACC | RCV000377034.1, |