rs118204037
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs118204037(G;T) |
Make rs118204037(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 18 |
Position | 57559148 |
Gene | FECH |
is a | snp |
is | mentioned by |
dbSNP | rs118204037 |
dbSNP (classic) | rs118204037 |
ClinGen | rs118204037 |
ebi | rs118204037 |
HLI | rs118204037 |
Exac | rs118204037 |
Gnomad | rs118204037 |
Varsome | rs118204037 |
LitVar | rs118204037 |
Map | rs118204037 |
PheGenI | rs118204037 |
Biobank | rs118204037 |
1000 genomes | rs118204037 |
hgdp | rs118204037 |
ensembl | rs118204037 |
geneview | rs118204037 |
scholar | rs118204037 |
rs118204037 | |
pharmgkb | rs118204037 |
gwascentral | rs118204037 |
openSNP | rs118204037 |
23andMe | rs118204037 |
SNPshot | rs118204037 |
SNPdbe | rs118204037 |
MSV3d | rs118204037 |
GWAS Ctlg | rs118204037 |
GMAF | 0.0004591 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs118204037(A;A) rs118204037(T;T) |
Alt | rs118204037(A;A) rs118204037(T;T) |
Reference | Rs118204037(G;G) |
Significance | Other |
Disease | Erythropoietic protoporphyria |
Variation | info |
Gene | FECH |
CLNDBN | Erythropoietic protoporphyria |
Reversed | 1 |
HGVS | NC_000018.9:g.55226380C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000000579.5, |