rs764466739
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs764466739(-;-) |
Make rs764466739(-;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 18 |
Position | 57551316 |
Gene | FECH |
is a | snp |
is | mentioned by |
dbSNP | rs764466739 |
dbSNP (classic) | rs764466739 |
ClinGen | rs764466739 |
ebi | rs764466739 |
HLI | rs764466739 |
Exac | rs764466739 |
Gnomad | rs764466739 |
Varsome | rs764466739 |
LitVar | rs764466739 |
Map | rs764466739 |
PheGenI | rs764466739 |
Biobank | rs764466739 |
1000 genomes | rs764466739 |
hgdp | rs764466739 |
ensembl | rs764466739 |
geneview | rs764466739 |
scholar | rs764466739 |
rs764466739 | |
pharmgkb | rs764466739 |
gwascentral | rs764466739 |
openSNP | rs764466739 |
23andMe | rs764466739 |
SNPshot | rs764466739 |
SNPdbe | rs764466739 |
MSV3d | rs764466739 |
GWAS Ctlg | rs764466739 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs764466739(-;-) |
Alt | rs764466739(-;-) |
Reference | Rs764466739(T;T) |
Significance | Pathogenic |
Disease | Erythropoietic protoporphyria |
Variation | info |
Gene | FECH |
CLNDBN | Erythropoietic protoporphyria |
Reversed | 0 |
HGVS | NC_000018.9:g.55218548delT |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000000588.4, |