rs140119177
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs140119177(A;A) |
Make rs140119177(A;G) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 9 |
Position | 93447639 |
Gene | FAM120AOS |
is a | snp |
is | mentioned by |
dbSNP | rs140119177 |
dbSNP (classic) | rs140119177 |
ClinGen | rs140119177 |
ebi | rs140119177 |
HLI | rs140119177 |
Exac | rs140119177 |
Gnomad | rs140119177 |
Varsome | rs140119177 |
LitVar | rs140119177 |
Map | rs140119177 |
PheGenI | rs140119177 |
Biobank | rs140119177 |
1000 genomes | rs140119177 |
hgdp | rs140119177 |
ensembl | rs140119177 |
geneview | rs140119177 |
scholar | rs140119177 |
rs140119177 | |
pharmgkb | rs140119177 |
gwascentral | rs140119177 |
openSNP | rs140119177 |
23andMe | rs140119177 |
SNPshot | rs140119177 |
SNPdbe | rs140119177 |
MSV3d | rs140119177 |
GWAS Ctlg | rs140119177 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs140119177(A;A) |
Alt | rs140119177(A;A) |
Reference | Rs140119177(G;G) |
Significance | Probable-Pathogenic |
Disease | Bilateral undescended testicles Chronic lung disease Coarse facial features Cutis laxa Gastroesophageal reflux Hyperactive airways Muscular hypotonia Pectus excavatum Scoliosis |
Variation | info |
Gene | FAM120AOS |
CLNDBN | Bilateral undescended testicles Chronic lung disease Coarse facial features Cutis laxa Gastroesophageal reflux Hyperactive airways Muscular hypotonia Pectus excavatum Scoliosis |
Reversed | 0 |
HGVS | NC_000009.11:g.96209921G>A |
CLNSRC | |
CLNACC | RCV000162176.1, |