rs542708170
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs542708170(C;T) |
Make rs542708170(T;T) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 5 |
Position | 13864632 |
Gene | DNAH5 |
is a | snp |
is | mentioned by |
dbSNP | rs542708170 |
dbSNP (classic) | rs542708170 |
ClinGen | rs542708170 |
ebi | rs542708170 |
HLI | rs542708170 |
Exac | rs542708170 |
Gnomad | rs542708170 |
Varsome | rs542708170 |
LitVar | rs542708170 |
Map | rs542708170 |
PheGenI | rs542708170 |
Biobank | rs542708170 |
1000 genomes | rs542708170 |
hgdp | rs542708170 |
ensembl | rs542708170 |
geneview | rs542708170 |
scholar | rs542708170 |
rs542708170 | |
pharmgkb | rs542708170 |
gwascentral | rs542708170 |
openSNP | rs542708170 |
23andMe | rs542708170 |
SNPshot | rs542708170 |
SNPdbe | rs542708170 |
MSV3d | rs542708170 |
GWAS Ctlg | rs542708170 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs542708170(T;T) |
Alt | rs542708170(T;T) |
Reference | Rs542708170(C;C) |
Significance | Probable-Pathogenic |
Disease | not specified Primary ciliary dyskinesia Ciliary dyskinesia |
Variation | info |
Gene | DNAH5 |
CLNDBN | not specified Primary ciliary dyskinesia Ciliary dyskinesia, primary, 3 |
Reversed | 0 |
HGVS | NC_000005.9:g.13864741C>T |
CLNSRC | |
CLNACC | RCV000266533.1, RCV000303721.1, RCV000477841.1, |