rs146899669
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs146899669(A;C) |
Make rs146899669(C;C) |
Reference | GRCh38 38.1/141 |
Chromosome | 18 |
Position | 57550753 |
Gene | FECH |
is a | snp |
is | mentioned by |
dbSNP | rs146899669 |
dbSNP (classic) | rs146899669 |
ClinGen | rs146899669 |
ebi | rs146899669 |
HLI | rs146899669 |
Exac | rs146899669 |
Gnomad | rs146899669 |
Varsome | rs146899669 |
LitVar | rs146899669 |
Map | rs146899669 |
PheGenI | rs146899669 |
Biobank | rs146899669 |
1000 genomes | rs146899669 |
hgdp | rs146899669 |
ensembl | rs146899669 |
geneview | rs146899669 |
scholar | rs146899669 |
rs146899669 | |
pharmgkb | rs146899669 |
gwascentral | rs146899669 |
openSNP | rs146899669 |
23andMe | rs146899669 |
SNPshot | rs146899669 |
SNPdbe | rs146899669 |
MSV3d | rs146899669 |
GWAS Ctlg | rs146899669 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs146899669(C;C) |
Alt | rs146899669(C;C) |
Reference | Rs146899669(A;A) |
Significance | Pathogenic |
Disease | Erythropoietic protoporphyria |
Variation | info |
Gene | FECH |
CLNDBN | Erythropoietic protoporphyria |
Reversed | 0 |
HGVS | NC_000018.9:g.55217985A>C |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000000591.3, |