rs387907021
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs387907021(A;G) |
Make rs387907021(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 14 |
Position | 73689432 |
Gene | DNAL1 |
is a | snp |
is | mentioned by |
dbSNP | rs387907021 |
dbSNP (classic) | rs387907021 |
ClinGen | rs387907021 |
ebi | rs387907021 |
HLI | rs387907021 |
Exac | rs387907021 |
Gnomad | rs387907021 |
Varsome | rs387907021 |
LitVar | rs387907021 |
Map | rs387907021 |
PheGenI | rs387907021 |
Biobank | rs387907021 |
1000 genomes | rs387907021 |
hgdp | rs387907021 |
ensembl | rs387907021 |
geneview | rs387907021 |
scholar | rs387907021 |
rs387907021 | |
pharmgkb | rs387907021 |
gwascentral | rs387907021 |
openSNP | rs387907021 |
23andMe | rs387907021 |
SNPshot | rs387907021 |
SNPdbe | rs387907021 |
MSV3d | rs387907021 |
GWAS Ctlg | rs387907021 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs387907021(G;G) |
Alt | rs387907021(G;G) |
Reference | Rs387907021(A;A) |
Significance | Pathogenic |
Disease | Ciliary dyskinesia Kartagener syndrome |
Variation | info |
Gene | DNAL1 |
CLNDBN | Ciliary dyskinesia, primary, 16 Kartagener syndrome |
Reversed | 0 |
HGVS | NC_000014.8:g.74156135A>G |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000023801.4, RCV000190934.1, |