rs267607431
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs267607431(A;T) |
Make rs267607431(T;T) |
Reference | GRCh38 38.1/142 |
Chromosome | 12 |
Position | 52791248 |
Gene | KRT3 |
is a | snp |
is | mentioned by |
dbSNP | rs267607431 |
dbSNP (classic) | rs267607431 |
ClinGen | rs267607431 |
ebi | rs267607431 |
HLI | rs267607431 |
Exac | rs267607431 |
Gnomad | rs267607431 |
Varsome | rs267607431 |
LitVar | rs267607431 |
Map | rs267607431 |
PheGenI | rs267607431 |
Biobank | rs267607431 |
1000 genomes | rs267607431 |
hgdp | rs267607431 |
ensembl | rs267607431 |
geneview | rs267607431 |
scholar | rs267607431 |
rs267607431 | |
pharmgkb | rs267607431 |
gwascentral | rs267607431 |
openSNP | rs267607431 |
23andMe | rs267607431 |
SNPshot | rs267607431 |
SNPdbe | rs267607431 |
MSV3d | rs267607431 |
GWAS Ctlg | rs267607431 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs267607431(T;T) |
Alt | rs267607431(T;T) |
Reference | Rs267607431(A;A) |
Significance | Pathogenic |
Disease | not provided Meesman's corneal dystrophy |
Variation | info |
Gene | KRT3 |
CLNDBN | not provided Meesman's corneal dystrophy |
Reversed | 1 |
HGVS | NC_000012.11:g.53185032T>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000057202.1, RCV000118979.2, |