rs1060503433
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs1060503433(C;T) |
Make rs1060503433(T;T) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 17 |
Position | 44901113 |
Gene | CCDC103, EFTUD2 |
is a | snp |
is | mentioned by |
dbSNP | rs1060503433 |
dbSNP (classic) | rs1060503433 |
ClinGen | rs1060503433 |
ebi | rs1060503433 |
HLI | rs1060503433 |
Exac | rs1060503433 |
Gnomad | rs1060503433 |
Varsome | rs1060503433 |
LitVar | rs1060503433 |
Map | rs1060503433 |
PheGenI | rs1060503433 |
Biobank | rs1060503433 |
1000 genomes | rs1060503433 |
hgdp | rs1060503433 |
ensembl | rs1060503433 |
geneview | rs1060503433 |
scholar | rs1060503433 |
rs1060503433 | |
pharmgkb | rs1060503433 |
gwascentral | rs1060503433 |
openSNP | rs1060503433 |
23andMe | rs1060503433 |
SNPshot | rs1060503433 |
SNPdbe | rs1060503433 |
MSV3d | rs1060503433 |
GWAS Ctlg | rs1060503433 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1060503433(T;T) |
Alt | rs1060503433(T;T) |
Reference | Rs1060503433(C;C) |
Significance | Pathogenic |
Disease | Primary ciliary dyskinesia |
Variation | info |
Gene | CCDC103 EFTUD2 |
CLNDBN | Primary ciliary dyskinesia |
Reversed | 0 |
HGVS | NC_000017.10:g.42978481C>T |
CLNSRC | |
CLNACC | RCV000467115.1, |