rs59115483
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs59115483(A;A) |
Make rs59115483(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 12 |
Position | 52519789 |
Gene | KRT5 |
is a | snp |
is | mentioned by |
dbSNP | rs59115483 |
dbSNP (classic) | rs59115483 |
ClinGen | rs59115483 |
ebi | rs59115483 |
HLI | rs59115483 |
Exac | rs59115483 |
Gnomad | rs59115483 |
Varsome | rs59115483 |
LitVar | rs59115483 |
Map | rs59115483 |
PheGenI | rs59115483 |
Biobank | rs59115483 |
1000 genomes | rs59115483 |
hgdp | rs59115483 |
ensembl | rs59115483 |
geneview | rs59115483 |
scholar | rs59115483 |
rs59115483 | |
pharmgkb | rs59115483 |
gwascentral | rs59115483 |
openSNP | rs59115483 |
23andMe | rs59115483 |
SNPshot | rs59115483 |
SNPdbe | rs59115483 |
MSV3d | rs59115483 |
GWAS Ctlg | rs59115483 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs59115483(A;A) |
Alt | rs59115483(A;A) |
Reference | Rs59115483(G;G) |
Significance | Pathogenic |
Disease | Epidermolysis bullosa simplex Epidermolysis bullosa simplex not provided |
Variation | info |
Gene | KRT5 |
CLNDBN | Epidermolysis bullosa simplex, autosomal recessive Epidermolysis bullosa simplex, Cockayne-Touraine type not provided |
Reversed | 1 |
HGVS | NC_000012.11:g.52913573C>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000015763.26, RCV000015764.26, RCV000056603.2, |