rs58343600
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs58343600(C;C) |
Make rs58343600(C;G) |
Reference | GRCh37 37.1/132 |
Chromosome | 17 |
Position | 40866760 |
Gene | KRT12, LOC105371777 |
is a | snp |
is | mentioned by |
dbSNP | rs58343600 |
dbSNP (classic) | rs58343600 |
ClinGen | rs58343600 |
ebi | rs58343600 |
HLI | rs58343600 |
Exac | rs58343600 |
Gnomad | rs58343600 |
Varsome | rs58343600 |
LitVar | rs58343600 |
Map | rs58343600 |
PheGenI | rs58343600 |
Biobank | rs58343600 |
1000 genomes | rs58343600 |
hgdp | rs58343600 |
ensembl | rs58343600 |
geneview | rs58343600 |
scholar | rs58343600 |
rs58343600 | |
pharmgkb | rs58343600 |
gwascentral | rs58343600 |
openSNP | rs58343600 |
23andMe | rs58343600 |
SNPshot | rs58343600 |
SNPdbe | rs58343600 |
MSV3d | rs58343600 |
GWAS Ctlg | rs58343600 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs58343600(C;C) rs58343600(T;T) |
Alt | rs58343600(C;C) rs58343600(T;T) |
Reference | Rs58343600(G;G) |
Significance | Pathogenic |
Disease | not provided Meesman's corneal dystrophy |
Variation | info |
Gene | KRT12 |
CLNDBN | not provided Meesman's corneal dystrophy |
Reversed | 1 |
HGVS | NC_000017.10:g.39023012C>A; NC_000017.10:g.39023012C>G |
CLNSRC | UniProtKB (protein) OMIM Allelic Variant |
CLNACC | RCV000056427.1, RCV000008384.3, RCV000056426.1, |