rs57784225
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs57784225(A;C) |
Make rs57784225(C;C) |
Reference | GRCh38 38.1/141 |
Chromosome | 17 |
Position | 40822126 |
Gene | KRT10, TMEM99 |
is a | snp |
is | mentioned by |
dbSNP | rs57784225 |
dbSNP (classic) | rs57784225 |
ClinGen | rs57784225 |
ebi | rs57784225 |
HLI | rs57784225 |
Exac | rs57784225 |
Gnomad | rs57784225 |
Varsome | rs57784225 |
LitVar | rs57784225 |
Map | rs57784225 |
PheGenI | rs57784225 |
Biobank | rs57784225 |
1000 genomes | rs57784225 |
hgdp | rs57784225 |
ensembl | rs57784225 |
geneview | rs57784225 |
scholar | rs57784225 |
rs57784225 | |
pharmgkb | rs57784225 |
gwascentral | rs57784225 |
openSNP | rs57784225 |
23andMe | rs57784225 |
SNPshot | rs57784225 |
SNPdbe | rs57784225 |
MSV3d | rs57784225 |
GWAS Ctlg | rs57784225 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs57784225(C;C) |
Alt | rs57784225(C;C) |
Reference | Rs57784225(A;A) |
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.38978378T>G |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000015672.25, RCV000056493.1, |