rs1064792947
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(GTAAGTTGCGGAGCATG;GTAAGTTGCGGAGCATG) | 0 | common in clinvar |
Chromosome | 21 |
Position | 42482620 |
Gene | RSPH1 |
is a | snp |
is | mentioned by |
dbSNP | rs1064792947 |
dbSNP (classic) | rs1064792947 |
ClinGen | rs1064792947 |
ebi | rs1064792947 |
HLI | rs1064792947 |
Exac | rs1064792947 |
Gnomad | rs1064792947 |
Varsome | rs1064792947 |
LitVar | rs1064792947 |
Map | rs1064792947 |
PheGenI | rs1064792947 |
Biobank | rs1064792947 |
1000 genomes | rs1064792947 |
hgdp | rs1064792947 |
ensembl | rs1064792947 |
geneview | rs1064792947 |
scholar | rs1064792947 |
rs1064792947 | |
pharmgkb | rs1064792947 |
gwascentral | rs1064792947 |
openSNP | rs1064792947 |
23andMe | rs1064792947 |
SNPshot | rs1064792947 |
SNPdbe | rs1064792947 |
MSV3d | rs1064792947 |
GWAS Ctlg | rs1064792947 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1064792947(-;-) |
Alt | rs1064792947(-;-) |
Reference | Rs1064792947(GTAAGTTGCGGAGCATG;GTAAGTTGCGGAGCATG) |
Significance | Pathogenic |
Disease | Primary ciliary dyskinesia |
Variation | info |
Gene | RSPH1 |
CLNDBN | Primary ciliary dyskinesia |
Reversed | 1 |
HGVS | NC_000021.8:g.43902730_43902746del17 |
CLNSRC | |
CLNACC | RCV000462475.1, |