rs786205141
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs786205141(-;-) |
Make rs786205141(-;C) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 5 |
Position | 96762313 |
Gene | CAST, ERAP1 |
is a | snp |
is | mentioned by |
dbSNP | rs786205141 |
dbSNP (classic) | rs786205141 |
ClinGen | rs786205141 |
ebi | rs786205141 |
HLI | rs786205141 |
Exac | rs786205141 |
Gnomad | rs786205141 |
Varsome | rs786205141 |
LitVar | rs786205141 |
Map | rs786205141 |
PheGenI | rs786205141 |
Biobank | rs786205141 |
1000 genomes | rs786205141 |
hgdp | rs786205141 |
ensembl | rs786205141 |
geneview | rs786205141 |
scholar | rs786205141 |
rs786205141 | |
pharmgkb | rs786205141 |
gwascentral | rs786205141 |
openSNP | rs786205141 |
23andMe | rs786205141 |
SNPshot | rs786205141 |
SNPdbe | rs786205141 |
MSV3d | rs786205141 |
GWAS Ctlg | rs786205141 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs786205141(-;-) |
Alt | rs786205141(-;-) |
Reference | Rs786205141(C;C) |
Significance | Pathogenic |
Disease | Peeling skin with leukonychia |
Variation | info |
Gene | CAST ERAP1 |
CLNDBN | Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads |
Reversed | 1 |
HGVS | NC_000005.9:g.96098017delG |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000169752.3, |