rs397514596
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs397514596(C;C) |
Make rs397514596(C;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 8 |
Position | 132656866 |
Gene | LRRC6 |
is a | snp |
is | mentioned by |
dbSNP | rs397514596 |
dbSNP (classic) | rs397514596 |
ClinGen | rs397514596 |
ebi | rs397514596 |
HLI | rs397514596 |
Exac | rs397514596 |
Gnomad | rs397514596 |
Varsome | rs397514596 |
LitVar | rs397514596 |
Map | rs397514596 |
PheGenI | rs397514596 |
Biobank | rs397514596 |
1000 genomes | rs397514596 |
hgdp | rs397514596 |
ensembl | rs397514596 |
geneview | rs397514596 |
scholar | rs397514596 |
rs397514596 | |
pharmgkb | rs397514596 |
gwascentral | rs397514596 |
openSNP | rs397514596 |
23andMe | rs397514596 |
SNPshot | rs397514596 |
SNPdbe | rs397514596 |
MSV3d | rs397514596 |
GWAS Ctlg | rs397514596 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs397514596(C;C) |
Alt | rs397514596(C;C) |
Reference | Rs397514596(G;G) |
Significance | Pathogenic |
Disease | Ciliary dyskinesia |
Variation | info |
Gene | LRRC6 |
CLNDBN | Ciliary dyskinesia, primary, 19 |
Reversed | 1 |
HGVS | NC_000008.10:g.133669112C>G |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000033019.4, |