rs149067146
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs149067146(A;C) |
Make rs149067146(C;C) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 18 |
Position | 57573244 |
Gene | FECH |
is a | snp |
is | mentioned by |
dbSNP | rs149067146 |
dbSNP (classic) | rs149067146 |
ClinGen | rs149067146 |
ebi | rs149067146 |
HLI | rs149067146 |
Exac | rs149067146 |
Gnomad | rs149067146 |
Varsome | rs149067146 |
LitVar | rs149067146 |
Map | rs149067146 |
PheGenI | rs149067146 |
Biobank | rs149067146 |
1000 genomes | rs149067146 |
hgdp | rs149067146 |
ensembl | rs149067146 |
geneview | rs149067146 |
scholar | rs149067146 |
rs149067146 | |
pharmgkb | rs149067146 |
gwascentral | rs149067146 |
openSNP | rs149067146 |
23andMe | rs149067146 |
SNPshot | rs149067146 |
SNPdbe | rs149067146 |
MSV3d | rs149067146 |
GWAS Ctlg | rs149067146 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs149067146(C;C) |
Alt | rs149067146(C;C) |
Reference | Rs149067146(A;A) |
Significance | Pathogenic |
Disease | Erythropoietic protoporphyria |
Variation | info |
Gene | FECH |
CLNDBN | Erythropoietic protoporphyria |
Reversed | 0 |
HGVS | NC_000018.9:g.55240476A>C |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000000585.4, |