rs267606804
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs267606804(C;T) |
Make rs267606804(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 18 |
Position | 57550759 |
Gene | FECH |
is a | snp |
is | mentioned by |
dbSNP | rs267606804 |
dbSNP (classic) | rs267606804 |
ClinGen | rs267606804 |
ebi | rs267606804 |
HLI | rs267606804 |
Exac | rs267606804 |
Gnomad | rs267606804 |
Varsome | rs267606804 |
LitVar | rs267606804 |
Map | rs267606804 |
PheGenI | rs267606804 |
Biobank | rs267606804 |
1000 genomes | rs267606804 |
hgdp | rs267606804 |
ensembl | rs267606804 |
geneview | rs267606804 |
scholar | rs267606804 |
rs267606804 | |
pharmgkb | rs267606804 |
gwascentral | rs267606804 |
openSNP | rs267606804 |
23andMe | rs267606804 |
SNPshot | rs267606804 |
SNPdbe | rs267606804 |
MSV3d | rs267606804 |
GWAS Ctlg | rs267606804 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs267606804(T;T) |
Alt | rs267606804(T;T) |
Reference | Rs267606804(C;C) |
Significance | Pathogenic |
Disease | Erythropoietic protoporphyria |
Variation | info |
Gene | FECH |
CLNDBN | Erythropoietic protoporphyria |
Reversed | 1 |
HGVS | NC_000018.9:g.55217991G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000000591.3, |