rs80194531
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in complete genomics |
(A;C) | 4 | Corneal dystrophy, fuchs endothelial, 6 |
Make rs80194531(C;C) |
Reference | GRCh38 38.1/141 |
Chromosome | 10 |
Position | 31461211 |
Gene | ZEB1 |
is a | snp |
is | mentioned by |
dbSNP | rs80194531 |
dbSNP (classic) | rs80194531 |
ClinGen | rs80194531 |
ebi | rs80194531 |
HLI | rs80194531 |
Exac | rs80194531 |
Gnomad | rs80194531 |
Varsome | rs80194531 |
LitVar | rs80194531 |
Map | rs80194531 |
PheGenI | rs80194531 |
Biobank | rs80194531 |
1000 genomes | rs80194531 |
hgdp | rs80194531 |
ensembl | rs80194531 |
geneview | rs80194531 |
scholar | rs80194531 |
rs80194531 | |
pharmgkb | rs80194531 |
gwascentral | rs80194531 |
openSNP | rs80194531 |
23andMe | rs80194531 |
SNPshot | rs80194531 |
SNPdbe | rs80194531 |
MSV3d | rs80194531 |
GWAS Ctlg | rs80194531 |
GMAF | 0.0124 |
Max Magnitude | 4 |
ClinVar | |
---|---|
Risk | rs80194531(C;C) |
Alt | rs80194531(C;C) |
Reference | Rs80194531(A;A) |
Significance | Pathogenic |
Disease | Corneal dystrophy |
Variation | info |
Gene | ZEB1 |
CLNDBN | Corneal dystrophy, Fuchs endothelial, 6 |
Reversed | 0 |
HGVS | NC_000010.10:g.31750140A>C |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000013468.16, |