rs786205053
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs786205053(-;GCAGC) |
Make rs786205053(GCAGC;GCAGC) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 3 |
Position | 98593373 |
Gene | CPOX |
is a | snp |
is | mentioned by |
dbSNP | rs786205053 |
dbSNP (classic) | rs786205053 |
ClinGen | rs786205053 |
ebi | rs786205053 |
HLI | rs786205053 |
Exac | rs786205053 |
Gnomad | rs786205053 |
Varsome | rs786205053 |
LitVar | rs786205053 |
Map | rs786205053 |
PheGenI | rs786205053 |
Biobank | rs786205053 |
1000 genomes | rs786205053 |
hgdp | rs786205053 |
ensembl | rs786205053 |
geneview | rs786205053 |
scholar | rs786205053 |
rs786205053 | |
pharmgkb | rs786205053 |
gwascentral | rs786205053 |
openSNP | rs786205053 |
23andMe | rs786205053 |
SNPshot | rs786205053 |
SNPdbe | rs786205053 |
MSV3d | rs786205053 |
GWAS Ctlg | rs786205053 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs786205053(GCAGC;GCAGC) |
Alt | rs786205053(GCAGC;GCAGC) |
Reference | Rs786205053(-;-) |
Significance | Pathogenic |
Disease | Coproporphyria not provided |
Variation | info |
Gene | CPOX |
CLNDBN | Coproporphyria not provided |
Reversed | 1 |
HGVS | NC_000003.11:g.98312218_98312222dupGCTGC |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000000483.4, RCV000483708.1, |