rs137853191
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs137853191(A;A) |
Make rs137853191(A;C) |
Reference | GRCh38 38.1/141 |
Chromosome | 14 |
Position | 49635127 |
Gene | DNAAF2 |
is a | snp |
is | mentioned by |
dbSNP | rs137853191 |
dbSNP (classic) | rs137853191 |
ClinGen | rs137853191 |
ebi | rs137853191 |
HLI | rs137853191 |
Exac | rs137853191 |
Gnomad | rs137853191 |
Varsome | rs137853191 |
LitVar | rs137853191 |
Map | rs137853191 |
PheGenI | rs137853191 |
Biobank | rs137853191 |
1000 genomes | rs137853191 |
hgdp | rs137853191 |
ensembl | rs137853191 |
geneview | rs137853191 |
scholar | rs137853191 |
rs137853191 | |
pharmgkb | rs137853191 |
gwascentral | rs137853191 |
openSNP | rs137853191 |
23andMe | rs137853191 |
SNPshot | rs137853191 |
SNPdbe | rs137853191 |
MSV3d | rs137853191 |
GWAS Ctlg | rs137853191 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs137853191(A;A) rs137853191(T;T) |
Alt | rs137853191(A;A) rs137853191(T;T) |
Reference | Rs137853191(C;C) |
Significance | Pathogenic |
Disease | Ciliary dyskinesia Kartagener syndrome |
Variation | info |
Gene | DNAAF2 |
CLNDBN | Ciliary dyskinesia, primary, 10 Kartagener syndrome |
Reversed | 1 |
HGVS | NC_000014.8:g.50101845G>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000000559.5, RCV000190866.1, |