rs60725382
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs60725382(A;A) |
Make rs60725382(A;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 17 |
Position | 41584410 |
Gene | KRT14 |
is a | snp |
is | mentioned by |
dbSNP | rs60725382 |
dbSNP (classic) | rs60725382 |
ClinGen | rs60725382 |
ebi | rs60725382 |
HLI | rs60725382 |
Exac | rs60725382 |
Gnomad | rs60725382 |
Varsome | rs60725382 |
LitVar | rs60725382 |
Map | rs60725382 |
PheGenI | rs60725382 |
Biobank | rs60725382 |
1000 genomes | rs60725382 |
hgdp | rs60725382 |
ensembl | rs60725382 |
geneview | rs60725382 |
scholar | rs60725382 |
rs60725382 | |
pharmgkb | rs60725382 |
gwascentral | rs60725382 |
openSNP | rs60725382 |
23andMe | rs60725382 |
SNPshot | rs60725382 |
SNPdbe | rs60725382 |
MSV3d | rs60725382 |
GWAS Ctlg | rs60725382 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs60725382(A;A) |
Alt | rs60725382(A;A) |
Reference | Rs60725382(T;T) |
Significance | Pathogenic |
Disease | Epidermolysis bullosa simplex not provided |
Variation | info |
Gene | KRT14 |
CLNDBN | Epidermolysis bullosa simplex, autosomal recessive not provided |
Reversed | 1 |
HGVS | NC_000017.10:g.39740662A>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000015720.22, RCV000056746.1, |