rs398122400
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs398122400(-;-) |
Make rs398122400(-;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 18 |
Position | 31343965 |
Gene | DSG1, DSG1-AS1 |
is a | snp |
is | mentioned by |
dbSNP | rs398122400 |
dbSNP (classic) | rs398122400 |
ClinGen | rs398122400 |
ebi | rs398122400 |
HLI | rs398122400 |
Exac | rs398122400 |
Gnomad | rs398122400 |
Varsome | rs398122400 |
LitVar | rs398122400 |
Map | rs398122400 |
PheGenI | rs398122400 |
Biobank | rs398122400 |
1000 genomes | rs398122400 |
hgdp | rs398122400 |
ensembl | rs398122400 |
geneview | rs398122400 |
scholar | rs398122400 |
rs398122400 | |
pharmgkb | rs398122400 |
gwascentral | rs398122400 |
openSNP | rs398122400 |
23andMe | rs398122400 |
SNPshot | rs398122400 |
SNPdbe | rs398122400 |
MSV3d | rs398122400 |
GWAS Ctlg | rs398122400 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs398122400(-;-) |
Alt | rs398122400(-;-) |
Reference | Rs398122400(G;G) |
Significance | Pathogenic |
Disease | Erythroderma |
Variation | info |
Gene | DSG1-AS1 LOC101927718 DSG1 |
CLNDBN | Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige |
Reversed | 0 |
HGVS | NC_000018.9:g.28923928delG |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000074356.18, |