rs60118264
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs60118264(C;C) |
Make rs60118264(C;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 17 |
Position | 40822104 |
Gene | KRT10, TMEM99 |
is a | snp |
is | mentioned by |
dbSNP | rs60118264 |
dbSNP (classic) | rs60118264 |
ClinGen | rs60118264 |
ebi | rs60118264 |
HLI | rs60118264 |
Exac | rs60118264 |
Gnomad | rs60118264 |
Varsome | rs60118264 |
LitVar | rs60118264 |
Map | rs60118264 |
PheGenI | rs60118264 |
Biobank | rs60118264 |
1000 genomes | rs60118264 |
hgdp | rs60118264 |
ensembl | rs60118264 |
geneview | rs60118264 |
scholar | rs60118264 |
rs60118264 | |
pharmgkb | rs60118264 |
gwascentral | rs60118264 |
openSNP | rs60118264 |
23andMe | rs60118264 |
SNPshot | rs60118264 |
SNPdbe | rs60118264 |
MSV3d | rs60118264 |
GWAS Ctlg | rs60118264 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs60118264(C;C) |
Alt | rs60118264(C;C) |
Reference | Rs60118264(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.38978356A>G |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000015670.25, RCV000056504.1, |