rs755596256
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs755596256(A;A) |
Make rs755596256(A;C) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 5 |
Position | 13814801 |
Gene | DNAH5 |
is a | snp |
is | mentioned by |
dbSNP | rs755596256 |
dbSNP (classic) | rs755596256 |
ClinGen | rs755596256 |
ebi | rs755596256 |
HLI | rs755596256 |
Exac | rs755596256 |
Gnomad | rs755596256 |
Varsome | rs755596256 |
LitVar | rs755596256 |
Map | rs755596256 |
PheGenI | rs755596256 |
Biobank | rs755596256 |
1000 genomes | rs755596256 |
hgdp | rs755596256 |
ensembl | rs755596256 |
geneview | rs755596256 |
scholar | rs755596256 |
rs755596256 | |
pharmgkb | rs755596256 |
gwascentral | rs755596256 |
openSNP | rs755596256 |
23andMe | rs755596256 |
SNPshot | rs755596256 |
SNPdbe | rs755596256 |
MSV3d | rs755596256 |
GWAS Ctlg | rs755596256 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs755596256(A;A) rs755596256(T;T) |
Alt | rs755596256(A;A) rs755596256(T;T) |
Reference | Rs755596256(C;C) |
Significance | Pathogenic |
Disease | Primary ciliary dyskinesia |
Variation | info |
Gene | DNAH5 |
CLNDBN | Primary ciliary dyskinesia |
Reversed | 0 |
HGVS | NC_000005.9:g.13814910C>T |
CLNSRC | |
CLNACC | RCV000231665.1, |