rs121909210
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs121909210(C;T) |
Make rs121909210(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 5 |
Position | 136046406 |
Gene | TGFBI |
is a | snp |
is | mentioned by |
dbSNP | rs121909210 |
dbSNP (classic) | rs121909210 |
ClinGen | rs121909210 |
ebi | rs121909210 |
HLI | rs121909210 |
Exac | rs121909210 |
Gnomad | rs121909210 |
Varsome | rs121909210 |
LitVar | rs121909210 |
Map | rs121909210 |
PheGenI | rs121909210 |
Biobank | rs121909210 |
1000 genomes | rs121909210 |
hgdp | rs121909210 |
ensembl | rs121909210 |
geneview | rs121909210 |
scholar | rs121909210 |
rs121909210 | |
pharmgkb | rs121909210 |
gwascentral | rs121909210 |
openSNP | rs121909210 |
23andMe | rs121909210 |
SNPshot | rs121909210 |
SNPdbe | rs121909210 |
MSV3d | rs121909210 |
GWAS Ctlg | rs121909210 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121909210(A;A) rs121909210(T;T) |
Alt | rs121909210(A;A) rs121909210(T;T) |
Reference | Rs121909210(C;C) |
Significance | Pathogenic |
Disease | Groenouw corneal dystrophy type I Lattice corneal dystrophy Type I |
Variation | info |
Gene | TGFBI |
CLNDBN | Groenouw corneal dystrophy type I Lattice corneal dystrophy Type I |
Reversed | 0 |
HGVS | NC_000005.9:g.135382095C>A; NC_000005.9:g.135382095C>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000008322.2, RCV000008317.3, |