rs606231165
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;CCAAGGTCTTCA) | 3 | Carrier of a primary ciliary dyskinesia mutation |
(CACCAAGGTCTT;CACCAAGGTCTT) | 0 | common in clinvar |
Make rs606231165(-;-) |
Make rs606231165(CCAAGGTCTTCA;CCAAGGTCTTCA) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 9 |
Position | 34514482 |
Gene | DNAI1 |
is a | snp |
is | mentioned by |
dbSNP | rs606231165 |
dbSNP (classic) | rs606231165 |
ClinGen | rs606231165 |
ebi | rs606231165 |
HLI | rs606231165 |
Exac | rs606231165 |
Gnomad | rs606231165 |
Varsome | rs606231165 |
LitVar | rs606231165 |
Map | rs606231165 |
PheGenI | rs606231165 |
Biobank | rs606231165 |
1000 genomes | rs606231165 |
hgdp | rs606231165 |
ensembl | rs606231165 |
geneview | rs606231165 |
scholar | rs606231165 |
rs606231165 | |
pharmgkb | rs606231165 |
gwascentral | rs606231165 |
openSNP | rs606231165 |
23andMe | rs606231165 |
SNPshot | rs606231165 |
SNPdbe | rs606231165 |
MSV3d | rs606231165 |
GWAS Ctlg | rs606231165 |
Max Magnitude | 3 |
aka c.1658_1669delCCAAGGTCTTCA
ClinVar | |
---|---|
Risk | rs606231165(-;-) |
Alt | rs606231165(-;-) |
Reference | Rs606231165(CACCAAGGTCTT;CACCAAGGTCTT) |
Significance | Pathogenic |
Disease | Kartagener syndrome |
Variation | info |
Gene | DNAI1 |
CLNDBN | Kartagener syndrome |
Reversed | 0 |
HGVS | NC_000009.11:g.34514480_34514491delCCAAGGTCTTCA |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000005957.2, |