rs58414354
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs58414354(G;G) |
Make rs58414354(G;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 17 |
Position | 40822108 |
Gene | KRT10, TMEM99 |
is a | snp |
is | mentioned by |
dbSNP | rs58414354 |
dbSNP (classic) | rs58414354 |
ClinGen | rs58414354 |
ebi | rs58414354 |
HLI | rs58414354 |
Exac | rs58414354 |
Gnomad | rs58414354 |
Varsome | rs58414354 |
LitVar | rs58414354 |
Map | rs58414354 |
PheGenI | rs58414354 |
Biobank | rs58414354 |
1000 genomes | rs58414354 |
hgdp | rs58414354 |
ensembl | rs58414354 |
geneview | rs58414354 |
scholar | rs58414354 |
rs58414354 | |
pharmgkb | rs58414354 |
gwascentral | rs58414354 |
openSNP | rs58414354 |
23andMe | rs58414354 |
SNPshot | rs58414354 |
SNPdbe | rs58414354 |
MSV3d | rs58414354 |
GWAS Ctlg | rs58414354 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs58414354(G;G) |
Alt | rs58414354(G;G) |
Reference | Rs58414354(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.38978360A>C |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000015673.25, RCV000056501.1, |