rs201213030
From SNPedia
Orientation | plus |
Stabilized | plus |
Make rs201213030(C;T) |
Make rs201213030(T;T) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 10 |
Position | 27936759 |
Gene | ARMC4 |
is a | snp |
is | mentioned by |
dbSNP | rs201213030 |
dbSNP (classic) | rs201213030 |
ClinGen | rs201213030 |
ebi | rs201213030 |
HLI | rs201213030 |
Exac | rs201213030 |
Gnomad | rs201213030 |
Varsome | rs201213030 |
LitVar | rs201213030 |
Map | rs201213030 |
PheGenI | rs201213030 |
Biobank | rs201213030 |
1000 genomes | rs201213030 |
hgdp | rs201213030 |
ensembl | rs201213030 |
geneview | rs201213030 |
scholar | rs201213030 |
rs201213030 | |
pharmgkb | rs201213030 |
gwascentral | rs201213030 |
openSNP | rs201213030 |
23andMe | rs201213030 |
SNPshot | rs201213030 |
SNPdbe | rs201213030 |
MSV3d | rs201213030 |
GWAS Ctlg | rs201213030 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs201213030(T;T) |
Alt | rs201213030(T;T) |
Reference | Rs201213030(C;C) |
Significance | Pathogenic |
Disease | Primary ciliary dyskinesia 23 |
Variation | info |
Gene | ARMC4 |
CLNDBN | Primary ciliary dyskinesia 23 |
Reversed | 0 |
HGVS | NC_000010.10:g.28225688C>T |
CLNSRC | |
CLNACC | RCV000234856.1, |