rs397515340
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(AGA;AGA) | 0 | common in clinvar |
(GAA;GAA) | 0 | common in clinvar |
Make rs397515340(-;-) |
Make rs397515340(-;GAA) |
Reference | GRCh38 38.1/141 |
Chromosome | 6 |
Position | 43670919 |
Gene | MRPS18A, RSPH9 |
is a | snp |
is | mentioned by |
dbSNP | rs397515340 |
dbSNP (classic) | rs397515340 |
ClinGen | rs397515340 |
ebi | rs397515340 |
HLI | rs397515340 |
Exac | rs397515340 |
Gnomad | rs397515340 |
Varsome | rs397515340 |
LitVar | rs397515340 |
Map | rs397515340 |
PheGenI | rs397515340 |
Biobank | rs397515340 |
1000 genomes | rs397515340 |
hgdp | rs397515340 |
ensembl | rs397515340 |
geneview | rs397515340 |
scholar | rs397515340 |
rs397515340 | |
pharmgkb | rs397515340 |
gwascentral | rs397515340 |
openSNP | rs397515340 |
23andMe | rs397515340 |
SNPshot | rs397515340 |
SNPdbe | rs397515340 |
MSV3d | rs397515340 |
GWAS Ctlg | rs397515340 |
Merged from | Rs397518457 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs397515340(-;-) Rs397515340(AGA;AGA) |
Alt | rs397515340(-;-) Rs397515340(AGA;AGA) |
Reference | Rs397515340(GAA;GAA) |
Significance | Pathogenic |
Disease | Ciliary dyskinesia Kartagener syndrome Primary ciliary dyskinesia not provided |
Variation | info |
Gene | MRPS18A RSPH9 |
CLNDBN | Ciliary dyskinesia, primary, 12 Kartagener syndrome Primary ciliary dyskinesia not provided |
Reversed | 0 |
HGVS | NC_000006.11:g.43638659_43638661delGAA |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000057516.6, RCV000190874.1, RCV000234192.1, RCV000487186.1, |