rs121909392
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs121909392(A;A) |
Make rs121909392(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 20 |
Position | 3228259 |
Gene | SLC4A11 |
is a | snp |
is | mentioned by |
dbSNP | rs121909392 |
dbSNP (classic) | rs121909392 |
ClinGen | rs121909392 |
ebi | rs121909392 |
HLI | rs121909392 |
Exac | rs121909392 |
Gnomad | rs121909392 |
Varsome | rs121909392 |
LitVar | rs121909392 |
Map | rs121909392 |
PheGenI | rs121909392 |
Biobank | rs121909392 |
1000 genomes | rs121909392 |
hgdp | rs121909392 |
ensembl | rs121909392 |
geneview | rs121909392 |
scholar | rs121909392 |
rs121909392 | |
pharmgkb | rs121909392 |
gwascentral | rs121909392 |
openSNP | rs121909392 |
23andMe | rs121909392 |
SNPshot | rs121909392 |
SNPdbe | rs121909392 |
MSV3d | rs121909392 |
GWAS Ctlg | rs121909392 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121909392(A;A) |
Alt | rs121909392(A;A) |
Reference | Rs121909392(G;G) |
Significance | Pathogenic |
Disease | Corneal endothelial dystrophy |
Variation | info |
Gene | SLC4A11 |
CLNDBN | Corneal endothelial dystrophy |
Reversed | 1 |
HGVS | NC_000020.10:g.3208905C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000001374.3, |