rs58410481
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs58410481(A;G) |
Make rs58410481(G;G) |
Reference | GRCh37 37.1/132 |
Chromosome | 17 |
Position | 40866784 |
Gene | KRT12, LOC105371777 |
is a | snp |
is | mentioned by |
dbSNP | rs58410481 |
dbSNP (classic) | rs58410481 |
ClinGen | rs58410481 |
ebi | rs58410481 |
HLI | rs58410481 |
Exac | rs58410481 |
Gnomad | rs58410481 |
Varsome | rs58410481 |
LitVar | rs58410481 |
Map | rs58410481 |
PheGenI | rs58410481 |
Biobank | rs58410481 |
1000 genomes | rs58410481 |
hgdp | rs58410481 |
ensembl | rs58410481 |
geneview | rs58410481 |
scholar | rs58410481 |
rs58410481 | |
pharmgkb | rs58410481 |
gwascentral | rs58410481 |
openSNP | rs58410481 |
23andMe | rs58410481 |
SNPshot | rs58410481 |
SNPdbe | rs58410481 |
MSV3d | rs58410481 |
GWAS Ctlg | rs58410481 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs58410481(G;G) |
Alt | rs58410481(G;G) |
Reference | Rs58410481(A;A) |
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.39023036T>C |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000008385.4, RCV000056420.1, |