rs876657637
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(TTATCTT;TTATCTT) | 0 | common in clinvar |
Make rs876657637(-;-) |
Make rs876657637(-;TATCTTT) |
Make rs876657637(TATCTTT;TATCTTT) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 14 |
Position | 73671557 |
Gene | DNAL1 |
is a | snp |
is | mentioned by |
dbSNP | rs876657637 |
dbSNP (classic) | rs876657637 |
ClinGen | rs876657637 |
ebi | rs876657637 |
HLI | rs876657637 |
Exac | rs876657637 |
Gnomad | rs876657637 |
Varsome | rs876657637 |
LitVar | rs876657637 |
Map | rs876657637 |
PheGenI | rs876657637 |
Biobank | rs876657637 |
1000 genomes | rs876657637 |
hgdp | rs876657637 |
ensembl | rs876657637 |
geneview | rs876657637 |
scholar | rs876657637 |
rs876657637 | |
pharmgkb | rs876657637 |
gwascentral | rs876657637 |
openSNP | rs876657637 |
23andMe | rs876657637 |
SNPshot | rs876657637 |
SNPdbe | rs876657637 |
MSV3d | rs876657637 |
GWAS Ctlg | rs876657637 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs876657637(-;-) |
Alt | rs876657637(-;-) |
Reference | Rs876657637(TTATCTT;TTATCTT) |
Significance | Probable-Pathogenic |
Disease | Primary ciliary dyskinesia |
Variation | info |
Gene | DNAL1 |
CLNDBN | Primary ciliary dyskinesia |
Reversed | 0 |
HGVS | NC_000014.8:g.74138260_74138266delTATCTTT |
CLNSRC | |
CLNACC | RCV000217678.1, |