rs879255507
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs879255507(A;T) |
Make rs879255507(T;T) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 18 |
Position | 57551317 |
Gene | FECH |
is a | snp |
is | mentioned by |
dbSNP | rs879255507 |
dbSNP (classic) | rs879255507 |
ClinGen | rs879255507 |
ebi | rs879255507 |
HLI | rs879255507 |
Exac | rs879255507 |
Gnomad | rs879255507 |
Varsome | rs879255507 |
LitVar | rs879255507 |
Map | rs879255507 |
PheGenI | rs879255507 |
Biobank | rs879255507 |
1000 genomes | rs879255507 |
hgdp | rs879255507 |
ensembl | rs879255507 |
geneview | rs879255507 |
scholar | rs879255507 |
rs879255507 | |
pharmgkb | rs879255507 |
gwascentral | rs879255507 |
openSNP | rs879255507 |
23andMe | rs879255507 |
SNPshot | rs879255507 |
SNPdbe | rs879255507 |
MSV3d | rs879255507 |
GWAS Ctlg | rs879255507 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs879255507(T;T) |
Alt | rs879255507(T;T) |
Reference | Rs879255507(A;A) |
Significance | Pathogenic |
Disease | Erythropoietic protoporphyria |
Variation | info |
Gene | FECH |
CLNDBN | Erythropoietic protoporphyria |
Reversed | 1 |
HGVS | NC_000018.9:g.55218549T>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000000587.4, |