rs118020901
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
(A;C) | 4 | Corneal dystrophy, fuchs endothelial, 6 |
Make rs118020901(C;C) |
Reference | GRCh38 38.1/141 |
Chromosome | 10 |
Position | 31521854 |
Gene | ZEB1 |
is a | snp |
is | mentioned by |
dbSNP | rs118020901 |
dbSNP (classic) | rs118020901 |
ClinGen | rs118020901 |
ebi | rs118020901 |
HLI | rs118020901 |
Exac | rs118020901 |
Gnomad | rs118020901 |
Varsome | rs118020901 |
LitVar | rs118020901 |
Map | rs118020901 |
PheGenI | rs118020901 |
Biobank | rs118020901 |
1000 genomes | rs118020901 |
hgdp | rs118020901 |
ensembl | rs118020901 |
geneview | rs118020901 |
scholar | rs118020901 |
rs118020901 | |
pharmgkb | rs118020901 |
gwascentral | rs118020901 |
openSNP | rs118020901 |
23andMe | rs118020901 |
SNPshot | rs118020901 |
SNPdbe | rs118020901 |
MSV3d | rs118020901 |
GWAS Ctlg | rs118020901 |
GMAF | 0.00551 |
Max Magnitude | 4 |
ClinVar | |
---|---|
Risk | rs118020901(C;C) |
Alt | rs118020901(C;C) |
Reference | Rs118020901(A;A) |
Significance | Pathogenic |
Disease | Corneal dystrophy |
Variation | info |
Gene | ZEB1 |
CLNDBN | Corneal dystrophy, Fuchs endothelial, 6 |
Reversed | 0 |
HGVS | NC_000010.10:g.31810782A>C |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000013469.17, |