rs1060502829
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs1060502829(C;T) |
Make rs1060502829(T;T) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 16 |
Position | 84149072 |
Gene | DNAAF1 |
is a | snp |
is | mentioned by |
dbSNP | rs1060502829 |
dbSNP (classic) | rs1060502829 |
ClinGen | rs1060502829 |
ebi | rs1060502829 |
HLI | rs1060502829 |
Exac | rs1060502829 |
Gnomad | rs1060502829 |
Varsome | rs1060502829 |
LitVar | rs1060502829 |
Map | rs1060502829 |
PheGenI | rs1060502829 |
Biobank | rs1060502829 |
1000 genomes | rs1060502829 |
hgdp | rs1060502829 |
ensembl | rs1060502829 |
geneview | rs1060502829 |
scholar | rs1060502829 |
rs1060502829 | |
pharmgkb | rs1060502829 |
gwascentral | rs1060502829 |
openSNP | rs1060502829 |
23andMe | rs1060502829 |
SNPshot | rs1060502829 |
SNPdbe | rs1060502829 |
MSV3d | rs1060502829 |
GWAS Ctlg | rs1060502829 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1060502829(T;T) |
Alt | rs1060502829(T;T) |
Reference | Rs1060502829(C;C) |
Significance | Pathogenic |
Disease | Primary ciliary dyskinesia |
Variation | info |
Gene | DNAAF1 |
CLNDBN | Primary ciliary dyskinesia |
Reversed | 0 |
HGVS | NC_000016.9:g.84182677C>T |
CLNSRC | |
CLNACC | RCV000468722.1, |