rs58162394
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs58162394(G;G) |
Make rs58162394(G;T) |
Reference | GRCh37 37.1/132 |
Chromosome | 17 |
Position | 40863154 |
Gene | KRT12, LOC105371777 |
is a | snp |
is | mentioned by |
dbSNP | rs58162394 |
dbSNP (classic) | rs58162394 |
ClinGen | rs58162394 |
ebi | rs58162394 |
HLI | rs58162394 |
Exac | rs58162394 |
Gnomad | rs58162394 |
Varsome | rs58162394 |
LitVar | rs58162394 |
Map | rs58162394 |
PheGenI | rs58162394 |
Biobank | rs58162394 |
1000 genomes | rs58162394 |
hgdp | rs58162394 |
ensembl | rs58162394 |
geneview | rs58162394 |
scholar | rs58162394 |
rs58162394 | |
pharmgkb | rs58162394 |
gwascentral | rs58162394 |
openSNP | rs58162394 |
23andMe | rs58162394 |
SNPshot | rs58162394 |
SNPdbe | rs58162394 |
MSV3d | rs58162394 |
GWAS Ctlg | rs58162394 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs58162394(G;G) |
Alt | rs58162394(G;G) |
Reference | Rs58162394(T;T) |
Significance | Pathogenic |
Disease | Meesman's corneal dystrophy not provided |
Variation | info |
Gene | KRT12 |
CLNDBN | Meesman's corneal dystrophy not provided |
Reversed | 1 |
HGVS | NC_000017.10:g.39019406A>C |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000008387.4, RCV000056412.1, |