rs80358224
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs80358224(C;T) |
Make rs80358224(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 1 |
Position | 58576538 |
Gene | TACSTD2 |
is a | snp |
is | mentioned by |
dbSNP | rs80358224 |
dbSNP (classic) | rs80358224 |
ClinGen | rs80358224 |
ebi | rs80358224 |
HLI | rs80358224 |
Exac | rs80358224 |
Gnomad | rs80358224 |
Varsome | rs80358224 |
LitVar | rs80358224 |
Map | rs80358224 |
PheGenI | rs80358224 |
Biobank | rs80358224 |
1000 genomes | rs80358224 |
hgdp | rs80358224 |
ensembl | rs80358224 |
geneview | rs80358224 |
scholar | rs80358224 |
rs80358224 | |
pharmgkb | rs80358224 |
gwascentral | rs80358224 |
openSNP | rs80358224 |
23andMe | rs80358224 |
SNPshot | rs80358224 |
SNPdbe | rs80358224 |
MSV3d | rs80358224 |
GWAS Ctlg | rs80358224 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs80358224(T;T) |
Alt | rs80358224(T;T) |
Reference | Rs80358224(C;C) |
Significance | Pathogenic |
Disease | Lattice corneal dystrophy Type III |
Variation | info |
Gene | TACSTD2 |
CLNDBN | Lattice corneal dystrophy Type III |
Reversed | 1 |
HGVS | NC_000001.10:g.59042210G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000017567.27, |