rs58918655
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs58918655(G;G) |
Make rs58918655(G;T) |
Reference | GRCh37 37.1/132 |
Chromosome | 17 |
Position | 40866768 |
Gene | KRT12, LOC105371777 |
is a | snp |
is | mentioned by |
dbSNP | rs58918655 |
dbSNP (classic) | rs58918655 |
ClinGen | rs58918655 |
ebi | rs58918655 |
HLI | rs58918655 |
Exac | rs58918655 |
Gnomad | rs58918655 |
Varsome | rs58918655 |
LitVar | rs58918655 |
Map | rs58918655 |
PheGenI | rs58918655 |
Biobank | rs58918655 |
1000 genomes | rs58918655 |
hgdp | rs58918655 |
ensembl | rs58918655 |
geneview | rs58918655 |
scholar | rs58918655 |
rs58918655 | |
pharmgkb | rs58918655 |
gwascentral | rs58918655 |
openSNP | rs58918655 |
23andMe | rs58918655 |
SNPshot | rs58918655 |
SNPdbe | rs58918655 |
MSV3d | rs58918655 |
GWAS Ctlg | rs58918655 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs58918655(G;G) |
Alt | rs58918655(G;G) |
Reference | Rs58918655(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.39023020A>C |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000008388.5, RCV000056425.1, |