rs730882069
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs730882069(-;A) |
Make rs730882069(A;A) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 18 |
Position | 75286488 |
Gene | TSHZ1 |
is a | snp |
is | mentioned by |
dbSNP | rs730882069 |
dbSNP (classic) | rs730882069 |
ClinGen | rs730882069 |
ebi | rs730882069 |
HLI | rs730882069 |
Exac | rs730882069 |
Gnomad | rs730882069 |
Varsome | rs730882069 |
LitVar | rs730882069 |
Map | rs730882069 |
PheGenI | rs730882069 |
Biobank | rs730882069 |
1000 genomes | rs730882069 |
hgdp | rs730882069 |
ensembl | rs730882069 |
geneview | rs730882069 |
scholar | rs730882069 |
rs730882069 | |
pharmgkb | rs730882069 |
gwascentral | rs730882069 |
openSNP | rs730882069 |
23andMe | rs730882069 |
SNPshot | rs730882069 |
SNPdbe | rs730882069 |
MSV3d | rs730882069 |
GWAS Ctlg | rs730882069 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs730882069(A;A) |
Alt | rs730882069(A;A) |
Reference | Rs730882069(-;-) |
Significance | Pathogenic |
Disease | Aural atresia |
Variation | info |
Gene | TSHZ1 |
CLNDBN | Aural atresia, congenital |
Reversed | 0 |
HGVS | NC_000018.9:g.72998443_72998444insA |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000024184.3, |