rs397518457
From SNPedia
Merged into | rs397515340 |
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(AGA;AGA) | 0 | common in clinvar |
(GAA;GAA) | 0 | common in clinvar |
(I;I) | 0 | common genotype |
Make rs397518457(-;-) |
Make rs397518457(-;GAA) |
Reference | GRCh38 38.1/141 |
Chromosome | 6 |
Position | 43670922 |
Gene | MRPS18A, RSPH9 |
is a | snp |
is | mentioned by |
dbSNP | rs397518457 |
dbSNP (classic) | rs397518457 |
ClinGen | rs397518457 |
ebi | rs397518457 |
HLI | rs397518457 |
Exac | rs397518457 |
Gnomad | rs397518457 |
Varsome | rs397518457 |
LitVar | rs397518457 |
Map | rs397518457 |
PheGenI | rs397518457 |
Biobank | rs397518457 |
1000 genomes | rs397518457 |
hgdp | rs397518457 |
ensembl | rs397518457 |
geneview | rs397518457 |
scholar | rs397518457 |
rs397518457 | |
pharmgkb | rs397518457 |
gwascentral | rs397518457 |
openSNP | rs397518457 |
23andMe | rs397518457 |
SNPshot | rs397518457 |
SNPdbe | rs397518457 |
MSV3d | rs397518457 |
GWAS Ctlg | rs397518457 |
Status | Merged into rs397515340 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | |
Alt | |
Reference | Rs397518457(AGA;AGA) |
Significance | Pathogenic |
Disease | Ciliary dyskinesia Kartagener syndrome Primary ciliary dyskinesia |
Variation | info |
Gene | MRPS18A RSPH9 |
CLNDBN | Ciliary dyskinesia, primary, 12 Kartagener syndrome Primary ciliary dyskinesia |
Reversed | 0 |
HGVS | NC_000006.11:g.43638659_43638661delGAA |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000057516.5, RCV000190874.1, RCV000234192.1, |