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rs786205247

From SNPedia

Orientationminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs786205247(A;G)
Make rs786205247(G;G)
ReferenceGRCh38.p2 38.2/146
Chromosome18
Position57580062
GeneFECH
is asnp
is mentioned by
dbSNPrs786205247
ebirs786205247
HLIrs786205247
Exacrs786205247
Varsomers786205247
Maprs786205247
PheGenIrs786205247
hapmaprs786205247
1000 genomesrs786205247
hgdprs786205247
ensemblrs786205247
gopubmedrs786205247
geneviewrs786205247
scholarrs786205247
googlers786205247
pharmgkbrs786205247
gwascentralrs786205247
openSNPrs786205247
23andMers786205247
23andMe allrs786205247
SNP Nexus

SNPshotrs786205247
SNPdbers786205247
MSV3drs786205247
GWAS Ctlgrs786205247
Max Magnitude0
ClinVar
Risk rs786205247(G;G)
Alt rs786205247(G;G)
Reference rs786205247(A;A)
Significance Pathogenic
Disease Erythropoietic protoporphyria
Variation info
Gene FECH
CLNDBN Erythropoietic protoporphyria
Reversed 1
HGVS NC_000018.9:g.55247294T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000000589.4,