rs200693106
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs200693106(C;T) |
Make rs200693106(T;T) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 7 |
Position | 21702773 |
Gene | DNAH11 |
is a | snp |
is | mentioned by |
dbSNP | rs200693106 |
dbSNP (classic) | rs200693106 |
ClinGen | rs200693106 |
ebi | rs200693106 |
HLI | rs200693106 |
Exac | rs200693106 |
Gnomad | rs200693106 |
Varsome | rs200693106 |
LitVar | rs200693106 |
Map | rs200693106 |
PheGenI | rs200693106 |
Biobank | rs200693106 |
1000 genomes | rs200693106 |
hgdp | rs200693106 |
ensembl | rs200693106 |
geneview | rs200693106 |
scholar | rs200693106 |
rs200693106 | |
pharmgkb | rs200693106 |
gwascentral | rs200693106 |
openSNP | rs200693106 |
23andMe | rs200693106 |
SNPshot | rs200693106 |
SNPdbe | rs200693106 |
MSV3d | rs200693106 |
GWAS Ctlg | rs200693106 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs200693106(A;A) rs200693106(T;T) |
Alt | rs200693106(A;A) rs200693106(T;T) |
Reference | Rs200693106(C;C) |
Significance | Pathogenic |
Disease | Primary ciliary dyskinesia |
Variation | info |
Gene | DNAH11 |
CLNDBN | Primary ciliary dyskinesia |
Reversed | 0 |
HGVS | NC_000007.13:g.21742391C>T |
CLNSRC | |
CLNACC | RCV000223514.1, |