rs58751565
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs58751565(A;A) |
Make rs58751565(A;C) |
Reference | GRCh38 38.1/141 |
Chromosome | 12 |
Position | 52520283 |
Gene | KRT5 |
is a | snp |
is | mentioned by |
dbSNP | rs58751565 |
dbSNP (classic) | rs58751565 |
ClinGen | rs58751565 |
ebi | rs58751565 |
HLI | rs58751565 |
Exac | rs58751565 |
Gnomad | rs58751565 |
Varsome | rs58751565 |
LitVar | rs58751565 |
Map | rs58751565 |
PheGenI | rs58751565 |
Biobank | rs58751565 |
1000 genomes | rs58751565 |
hgdp | rs58751565 |
ensembl | rs58751565 |
geneview | rs58751565 |
scholar | rs58751565 |
rs58751565 | |
pharmgkb | rs58751565 |
gwascentral | rs58751565 |
openSNP | rs58751565 |
23andMe | rs58751565 |
SNPshot | rs58751565 |
SNPdbe | rs58751565 |
MSV3d | rs58751565 |
GWAS Ctlg | rs58751565 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs58751565(A;A) rs58751565(T;T) |
Alt | rs58751565(A;A) rs58751565(T;T) |
Reference | Rs58751565(C;C) |
Significance | Pathogenic |
Disease | Dowling-Degos disease 1 not provided |
Variation | info |
Gene | KRT5 |
CLNDBN | Dowling-Degos disease 1 not provided |
Reversed | 1 |
HGVS | NC_000012.11:g.52914067G>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000015753.23, RCV000056572.1, |