rs59075499
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(CG;CG) | 0 | common in clinvar |
Make rs59075499(CG;GA) |
Make rs59075499(GA;GA) |
Reference | GRCh38 38.1/141 |
Chromosome | 17 |
Position | 40819625 |
Gene | KRT10, TMEM99 |
is a | snp |
is | mentioned by |
dbSNP | rs59075499 |
dbSNP (classic) | rs59075499 |
ClinGen | rs59075499 |
ebi | rs59075499 |
HLI | rs59075499 |
Exac | rs59075499 |
Gnomad | rs59075499 |
Varsome | rs59075499 |
LitVar | rs59075499 |
Map | rs59075499 |
PheGenI | rs59075499 |
Biobank | rs59075499 |
1000 genomes | rs59075499 |
hgdp | rs59075499 |
ensembl | rs59075499 |
geneview | rs59075499 |
scholar | rs59075499 |
rs59075499 | |
pharmgkb | rs59075499 |
gwascentral | rs59075499 |
openSNP | rs59075499 |
23andMe | rs59075499 |
SNPshot | rs59075499 |
SNPdbe | rs59075499 |
MSV3d | rs59075499 |
GWAS Ctlg | rs59075499 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs59075499(GA;GA) |
Alt | rs59075499(GA;GA) |
Reference | Rs59075499(CG;CG) |
Significance | Pathogenic |
Disease | Ichthyosis not provided |
Variation | info |
Gene | KRT10 TMEM99 |
CLNDBN | Ichthyosis, cyclic, with epidermolytic hyperkeratosis not provided |
Reversed | 1 |
HGVS | NC_000017.10:g.38975877_38975878delCGinsTC |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000015681.21, RCV000056474.1, |