rs57872071
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs57872071(A;A) |
Make rs57872071(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 12 |
Position | 52791216 |
Gene | KRT3 |
is a | snp |
is | mentioned by |
dbSNP | rs57872071 |
dbSNP (classic) | rs57872071 |
ClinGen | rs57872071 |
ebi | rs57872071 |
HLI | rs57872071 |
Exac | rs57872071 |
Gnomad | rs57872071 |
Varsome | rs57872071 |
LitVar | rs57872071 |
Map | rs57872071 |
PheGenI | rs57872071 |
Biobank | rs57872071 |
1000 genomes | rs57872071 |
hgdp | rs57872071 |
ensembl | rs57872071 |
geneview | rs57872071 |
scholar | rs57872071 |
rs57872071 | |
pharmgkb | rs57872071 |
gwascentral | rs57872071 |
openSNP | rs57872071 |
23andMe | rs57872071 |
SNPshot | rs57872071 |
SNPdbe | rs57872071 |
MSV3d | rs57872071 |
GWAS Ctlg | rs57872071 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs57872071(A;A) |
Alt | rs57872071(A;A) |
Reference | Rs57872071(G;G) |
Significance | Pathogenic |
Disease | Meesman's corneal dystrophy not provided |
Variation | info |
Gene | KRT3 |
CLNDBN | Meesman's corneal dystrophy not provided |
Reversed | 1 |
HGVS | NC_000012.11:g.53185000C>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000015738.25, RCV000057204.1, |