rs200321595
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs200321595(C;G) |
Make rs200321595(G;G) |
Reference | GRCh38 38.1/142 |
Chromosome | 8 |
Position | 132632957 |
Gene | LRRC6 |
is a | snp |
is | mentioned by |
dbSNP | rs200321595 |
dbSNP (classic) | rs200321595 |
ClinGen | rs200321595 |
ebi | rs200321595 |
HLI | rs200321595 |
Exac | rs200321595 |
Gnomad | rs200321595 |
Varsome | rs200321595 |
LitVar | rs200321595 |
Map | rs200321595 |
PheGenI | rs200321595 |
Biobank | rs200321595 |
1000 genomes | rs200321595 |
hgdp | rs200321595 |
ensembl | rs200321595 |
geneview | rs200321595 |
scholar | rs200321595 |
rs200321595 | |
pharmgkb | rs200321595 |
gwascentral | rs200321595 |
openSNP | rs200321595 |
23andMe | rs200321595 |
SNPshot | rs200321595 |
SNPdbe | rs200321595 |
MSV3d | rs200321595 |
GWAS Ctlg | rs200321595 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs200321595(G;G) |
Alt | rs200321595(G;G) |
Reference | Rs200321595(C;C) |
Significance | Pathogenic |
Disease | Ciliary dyskinesia |
Variation | info |
Gene | LRRC6 |
CLNDBN | Ciliary dyskinesia, primary, 19 |
Reversed | 0 |
HGVS | NC_000008.10:g.133645203C>G |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000033020.4, |