rs587777271
From SNPedia
Orientation | plus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
(T;T) | 0 | common in clinvar |
Make rs587777271(C;C) |
Make rs587777271(C;T) |
Reference | GRCh38 38.1/142 |
Chromosome | 3 |
Position | 98585633 |
Gene | CPOX |
is a | snp |
is | mentioned by |
dbSNP | rs587777271 |
dbSNP (classic) | rs587777271 |
ClinGen | rs587777271 |
ebi | rs587777271 |
HLI | rs587777271 |
Exac | rs587777271 |
Gnomad | rs587777271 |
Varsome | rs587777271 |
LitVar | rs587777271 |
Map | rs587777271 |
PheGenI | rs587777271 |
Biobank | rs587777271 |
1000 genomes | rs587777271 |
hgdp | rs587777271 |
ensembl | rs587777271 |
geneview | rs587777271 |
scholar | rs587777271 |
rs587777271 | |
pharmgkb | rs587777271 |
gwascentral | rs587777271 |
openSNP | rs587777271 |
23andMe | rs587777271 |
SNPshot | rs587777271 |
SNPdbe | rs587777271 |
MSV3d | rs587777271 |
GWAS Ctlg | rs587777271 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs587777271(C;C) Rs587777271(T;T) |
Alt | rs587777271(C;C) Rs587777271(T;T) |
Reference | Rs587777271(A;A) |
Significance | Pathogenic |
Disease | Harderoporphyria |
Variation | info |
Gene | CPOX |
CLNDBN | Harderoporphyria |
Reversed | 1 |
HGVS | NC_000003.11:g.98304477T>C |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000114373.2, |