rs371374918
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs371374918(A;A) |
Make rs371374918(A;G) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 6 |
Position | 116627775 |
Gene | RSPH4A |
is a | snp |
is | mentioned by |
dbSNP | rs371374918 |
dbSNP (classic) | rs371374918 |
ClinGen | rs371374918 |
ebi | rs371374918 |
HLI | rs371374918 |
Exac | rs371374918 |
Gnomad | rs371374918 |
Varsome | rs371374918 |
LitVar | rs371374918 |
Map | rs371374918 |
PheGenI | rs371374918 |
Biobank | rs371374918 |
1000 genomes | rs371374918 |
hgdp | rs371374918 |
ensembl | rs371374918 |
geneview | rs371374918 |
scholar | rs371374918 |
rs371374918 | |
pharmgkb | rs371374918 |
gwascentral | rs371374918 |
openSNP | rs371374918 |
23andMe | rs371374918 |
SNPshot | rs371374918 |
SNPdbe | rs371374918 |
MSV3d | rs371374918 |
GWAS Ctlg | rs371374918 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs371374918(A;A) rs371374918(T;T) |
Alt | rs371374918(A;A) rs371374918(T;T) |
Reference | Rs371374918(G;G) |
Significance | Pathogenic |
Disease | Primary ciliary dyskinesia |
Variation | info |
Gene | RSPH4A |
CLNDBN | Primary ciliary dyskinesia |
Reversed | 0 |
HGVS | NC_000006.11:g.116948938G>A |
CLNSRC | |
CLNACC | RCV000473134.1, |