rs58619430
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs58619430(A;A) |
Make rs58619430(A;G) |
Reference | GRCh38.p7 38.3/149 |
Chromosome | 12 |
Position | 52519795 |
Gene | KRT5 |
is a | snp |
is | mentioned by |
dbSNP | rs58619430 |
dbSNP (classic) | rs58619430 |
ClinGen | rs58619430 |
ebi | rs58619430 |
HLI | rs58619430 |
Exac | rs58619430 |
Gnomad | rs58619430 |
Varsome | rs58619430 |
LitVar | rs58619430 |
Map | rs58619430 |
PheGenI | rs58619430 |
Biobank | rs58619430 |
1000 genomes | rs58619430 |
hgdp | rs58619430 |
ensembl | rs58619430 |
geneview | rs58619430 |
scholar | rs58619430 |
rs58619430 | |
pharmgkb | rs58619430 |
gwascentral | rs58619430 |
openSNP | rs58619430 |
23andMe | rs58619430 |
SNPshot | rs58619430 |
SNPdbe | rs58619430 |
MSV3d | rs58619430 |
GWAS Ctlg | rs58619430 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs58619430(A;A) |
Alt | rs58619430(A;A) |
Reference | Rs58619430(G;G) |
Significance | Pathogenic |
Disease | not provided |
Variation | info |
Gene | KRT5 |
CLNDBN | not provided |
Reversed | 1 |
HGVS | NC_000012.11:g.52913579C>T |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000056601.2, |