rs397515460
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs397515460(C;T) |
Make rs397515460(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 3 |
Position | 50342047 |
Gene | RASSF1, ZMYND10 |
is a | snp |
is | mentioned by |
dbSNP | rs397515460 |
dbSNP (classic) | rs397515460 |
ClinGen | rs397515460 |
ebi | rs397515460 |
HLI | rs397515460 |
Exac | rs397515460 |
Gnomad | rs397515460 |
Varsome | rs397515460 |
LitVar | rs397515460 |
Map | rs397515460 |
PheGenI | rs397515460 |
Biobank | rs397515460 |
1000 genomes | rs397515460 |
hgdp | rs397515460 |
ensembl | rs397515460 |
geneview | rs397515460 |
scholar | rs397515460 |
rs397515460 | |
pharmgkb | rs397515460 |
gwascentral | rs397515460 |
openSNP | rs397515460 |
23andMe | rs397515460 |
SNPshot | rs397515460 |
SNPdbe | rs397515460 |
MSV3d | rs397515460 |
GWAS Ctlg | rs397515460 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs397515460(T;T) |
Alt | rs397515460(T;T) |
Reference | Rs397515460(C;C) |
Significance | Pathogenic |
Disease | Ciliary dyskinesia |
Variation | info |
Gene | ZMYND10 RASSF1 |
CLNDBN | Ciliary dyskinesia, primary, 22 |
Reversed | 1 |
HGVS | NC_000003.11:g.50379478G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000056267.3, |