rs587777263
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs587777263(-;-) |
Make rs587777263(-;G) |
Reference | GRCh38 38.1/142 |
Chromosome | 11 |
Position | 130208449 |
Gene | ST14 |
is a | snp |
is | mentioned by |
dbSNP | rs587777263 |
dbSNP (classic) | rs587777263 |
ClinGen | rs587777263 |
ebi | rs587777263 |
HLI | rs587777263 |
Exac | rs587777263 |
Gnomad | rs587777263 |
Varsome | rs587777263 |
LitVar | rs587777263 |
Map | rs587777263 |
PheGenI | rs587777263 |
Biobank | rs587777263 |
1000 genomes | rs587777263 |
hgdp | rs587777263 |
ensembl | rs587777263 |
geneview | rs587777263 |
scholar | rs587777263 |
rs587777263 | |
pharmgkb | rs587777263 |
gwascentral | rs587777263 |
openSNP | rs587777263 |
23andMe | rs587777263 |
SNPshot | rs587777263 |
SNPdbe | rs587777263 |
MSV3d | rs587777263 |
GWAS Ctlg | rs587777263 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs587777263(-;-) |
Alt | rs587777263(-;-) |
Reference | Rs587777263(G;G) |
Significance | Pathogenic |
Disease | Ichthyosis |
Variation | info |
Gene | ST14 |
CLNDBN | Ichthyosis, congenital, autosomal recessive 11 |
Reversed | 0 |
HGVS | NC_000011.9:g.130078344delG |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000114360.2, |