rs80358194
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs80358194(A;A) |
Make rs80358194(A;C) |
Reference | GRCh38 38.1/141 |
Chromosome | 1 |
Position | 47417035 |
Gene | FOXE3, LINC01389 |
is a | snp |
is | mentioned by |
dbSNP | rs80358194 |
dbSNP (classic) | rs80358194 |
ClinGen | rs80358194 |
ebi | rs80358194 |
HLI | rs80358194 |
Exac | rs80358194 |
Gnomad | rs80358194 |
Varsome | rs80358194 |
LitVar | rs80358194 |
Map | rs80358194 |
PheGenI | rs80358194 |
Biobank | rs80358194 |
1000 genomes | rs80358194 |
hgdp | rs80358194 |
ensembl | rs80358194 |
geneview | rs80358194 |
scholar | rs80358194 |
rs80358194 | |
pharmgkb | rs80358194 |
gwascentral | rs80358194 |
openSNP | rs80358194 |
23andMe | rs80358194 |
SNPshot | rs80358194 |
SNPdbe | rs80358194 |
MSV3d | rs80358194 |
GWAS Ctlg | rs80358194 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs80358194(A;A) |
Alt | rs80358194(A;A) |
Reference | Rs80358194(C;C) |
Significance | Pathogenic |
Disease | Aphakia not provided |
Variation | info |
Gene | FOXE3 |
CLNDBN | Aphakia, congenital primary not provided |
Reversed | 0 |
HGVS | NC_000001.10:g.47882707C>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000008963.4, RCV000255267.1, |