rs148891849
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs148891849(C;C) |
Make rs148891849(C;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 5 |
Position | 13841895 |
Gene | DNAH5 |
is a | snp |
is | mentioned by |
dbSNP | rs148891849 |
dbSNP (classic) | rs148891849 |
ClinGen | rs148891849 |
ebi | rs148891849 |
HLI | rs148891849 |
Exac | rs148891849 |
Gnomad | rs148891849 |
Varsome | rs148891849 |
LitVar | rs148891849 |
Map | rs148891849 |
PheGenI | rs148891849 |
Biobank | rs148891849 |
1000 genomes | rs148891849 |
hgdp | rs148891849 |
ensembl | rs148891849 |
geneview | rs148891849 |
scholar | rs148891849 |
rs148891849 | |
pharmgkb | rs148891849 |
gwascentral | rs148891849 |
openSNP | rs148891849 |
23andMe | rs148891849 |
SNPshot | rs148891849 |
SNPdbe | rs148891849 |
MSV3d | rs148891849 |
GWAS Ctlg | rs148891849 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs148891849(A;A) rs148891849(C;C) |
Alt | rs148891849(A;A) rs148891849(C;C) |
Reference | Rs148891849(G;G) |
Significance | Pathogenic |
Disease | Primary ciliary dyskinesia not specified |
Variation | info |
Gene | DNAH5 |
CLNDBN | Primary ciliary dyskinesia not specified |
Reversed | 0 |
HGVS | NC_000005.9:g.13842004G>A; NC_000005.9:g.13842004G>C |
CLNSRC | |
CLNACC | RCV000204721.1, RCV000242807.1, RCV000468797.1, |