rs58026994
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs58026994(A;A) |
Make rs58026994(A;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 17 |
Position | 40819565 |
Gene | KRT10, TMEM99 |
is a | snp |
is | mentioned by |
dbSNP | rs58026994 |
dbSNP (classic) | rs58026994 |
ClinGen | rs58026994 |
ebi | rs58026994 |
HLI | rs58026994 |
Exac | rs58026994 |
Gnomad | rs58026994 |
Varsome | rs58026994 |
LitVar | rs58026994 |
Map | rs58026994 |
PheGenI | rs58026994 |
Biobank | rs58026994 |
1000 genomes | rs58026994 |
hgdp | rs58026994 |
ensembl | rs58026994 |
geneview | rs58026994 |
scholar | rs58026994 |
rs58026994 | |
pharmgkb | rs58026994 |
gwascentral | rs58026994 |
openSNP | rs58026994 |
23andMe | rs58026994 |
SNPshot | rs58026994 |
SNPdbe | rs58026994 |
MSV3d | rs58026994 |
GWAS Ctlg | rs58026994 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs58026994(A;A) |
Alt | rs58026994(A;A) |
Reference | Rs58026994(T;T) |
Significance | Pathogenic |
Disease | Bullous ichthyosiform erythroderma not provided |
Variation | info |
Gene | KRT10 TMEM99 |
CLNDBN | Bullous ichthyosiform erythroderma not provided |
Reversed | 1 |
HGVS | NC_000017.10:g.38975817A>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000015676.21, RCV000056479.1, |