rs121908854
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs121908854(C;T) |
Make rs121908854(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 7 |
Position | 21748602 |
Gene | DNAH11 |
is a | snp |
is | mentioned by |
dbSNP | rs121908854 |
dbSNP (classic) | rs121908854 |
ClinGen | rs121908854 |
ebi | rs121908854 |
HLI | rs121908854 |
Exac | rs121908854 |
Gnomad | rs121908854 |
Varsome | rs121908854 |
LitVar | rs121908854 |
Map | rs121908854 |
PheGenI | rs121908854 |
Biobank | rs121908854 |
1000 genomes | rs121908854 |
hgdp | rs121908854 |
ensembl | rs121908854 |
geneview | rs121908854 |
scholar | rs121908854 |
rs121908854 | |
pharmgkb | rs121908854 |
gwascentral | rs121908854 |
openSNP | rs121908854 |
23andMe | rs121908854 |
SNPshot | rs121908854 |
SNPdbe | rs121908854 |
MSV3d | rs121908854 |
GWAS Ctlg | rs121908854 |
GMAF | 0.003673 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121908854(A;A) rs121908854(G;G) rs121908854(T;T) |
Alt | rs121908854(A;A) rs121908854(G;G) rs121908854(T;T) |
Reference | Rs121908854(C;C) |
Significance | Other |
Disease | Primary ciliary dyskinesia Ciliary dyskinesia |
Variation | info |
Gene | DNAH11 |
CLNDBN | Primary ciliary dyskinesia Ciliary dyskinesia, primary, 7 |
Reversed | 0 |
HGVS | NC_000007.13:g.21788220C>A; NC_000007.13:g.21788220C>G; NC_000007.13:g.21788220C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000470056.1, RCV000378006.1, RCV000006847.4, |