rs727504802
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs727504802(-;-) |
Make rs727504802(-;G) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 5 |
Position | 13770905 |
Gene | DNAH5 |
is a | snp |
is | mentioned by |
dbSNP | rs727504802 |
dbSNP (classic) | rs727504802 |
ClinGen | rs727504802 |
ebi | rs727504802 |
HLI | rs727504802 |
Exac | rs727504802 |
Gnomad | rs727504802 |
Varsome | rs727504802 |
LitVar | rs727504802 |
Map | rs727504802 |
PheGenI | rs727504802 |
Biobank | rs727504802 |
1000 genomes | rs727504802 |
hgdp | rs727504802 |
ensembl | rs727504802 |
geneview | rs727504802 |
scholar | rs727504802 |
rs727504802 | |
pharmgkb | rs727504802 |
gwascentral | rs727504802 |
openSNP | rs727504802 |
23andMe | rs727504802 |
SNPshot | rs727504802 |
SNPdbe | rs727504802 |
MSV3d | rs727504802 |
GWAS Ctlg | rs727504802 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs727504802(-;-) |
Alt | rs727504802(-;-) |
Reference | Rs727504802(G;G) |
Significance | Pathogenic |
Disease | Primary ciliary dyskinesia not provided |
Variation | info |
Gene | DNAH5 |
CLNDBN | Primary ciliary dyskinesia not provided |
Reversed | 1 |
HGVS | NC_000005.9:g.13771014delC |
CLNSRC | |
CLNACC | RCV000156128.1, RCV000492880.1, |