rs72657316
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs72657316(C;T) |
Make rs72657316(T;T) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 7 |
Position | 21619178 |
Gene | DNAH11 |
is a | snp |
is | mentioned by |
dbSNP | rs72657316 |
dbSNP (classic) | rs72657316 |
ClinGen | rs72657316 |
ebi | rs72657316 |
HLI | rs72657316 |
Exac | rs72657316 |
Gnomad | rs72657316 |
Varsome | rs72657316 |
LitVar | rs72657316 |
Map | rs72657316 |
PheGenI | rs72657316 |
Biobank | rs72657316 |
1000 genomes | rs72657316 |
hgdp | rs72657316 |
ensembl | rs72657316 |
geneview | rs72657316 |
scholar | rs72657316 |
rs72657316 | |
pharmgkb | rs72657316 |
gwascentral | rs72657316 |
openSNP | rs72657316 |
23andMe | rs72657316 |
SNPshot | rs72657316 |
SNPdbe | rs72657316 |
MSV3d | rs72657316 |
GWAS Ctlg | rs72657316 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs72657316(T;T) |
Alt | rs72657316(T;T) |
Reference | Rs72657316(C;C) |
Significance | Pathogenic |
Disease | Primary ciliary dyskinesia |
Variation | info |
Gene | DNAH11 |
CLNDBN | Primary ciliary dyskinesia |
Reversed | 0 |
HGVS | NC_000007.13:g.21658796C>T |
CLNSRC | |
CLNACC | RCV000218593.1, |