rs786205246
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs786205246(A;C) |
Make rs786205246(C;C) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 18 |
Position | 57573240 |
Gene | FECH |
is a | snp |
is | mentioned by |
dbSNP | rs786205246 |
dbSNP (classic) | rs786205246 |
ClinGen | rs786205246 |
ebi | rs786205246 |
HLI | rs786205246 |
Exac | rs786205246 |
Gnomad | rs786205246 |
Varsome | rs786205246 |
LitVar | rs786205246 |
Map | rs786205246 |
PheGenI | rs786205246 |
Biobank | rs786205246 |
1000 genomes | rs786205246 |
hgdp | rs786205246 |
ensembl | rs786205246 |
geneview | rs786205246 |
scholar | rs786205246 |
rs786205246 | |
pharmgkb | rs786205246 |
gwascentral | rs786205246 |
openSNP | rs786205246 |
23andMe | rs786205246 |
SNPshot | rs786205246 |
SNPdbe | rs786205246 |
MSV3d | rs786205246 |
GWAS Ctlg | rs786205246 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs786205246(C;C) |
Alt | rs786205246(C;C) |
Reference | Rs786205246(A;A) |
Significance | Pathogenic |
Disease | Erythropoietic protoporphyria |
Variation | info |
Gene | FECH |
CLNDBN | Erythropoietic protoporphyria |
Reversed | 1 |
HGVS | NC_000018.9:g.55240472T>G |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000000586.4, |