Have questions? Visit https://www.reddit.com/r/SNPedia

rs118204039

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs118204039(C;C)
Make rs118204039(C;T)
ReferenceGRCh38 38.1/141
Chromosome18
Position57550734
GeneFECH
is asnp
is mentioned by
dbSNPrs118204039
ebirs118204039
HLIrs118204039
Exacrs118204039
Varsomers118204039
Maprs118204039
PheGenIrs118204039
hapmaprs118204039
1000 genomesrs118204039
hgdprs118204039
ensemblrs118204039
gopubmedrs118204039
geneviewrs118204039
scholarrs118204039
googlers118204039
pharmgkbrs118204039
gwascentralrs118204039
openSNPrs118204039
23andMers118204039
23andMe allrs118204039
SNP Nexus

SNPshotrs118204039
SNPdbers118204039
MSV3drs118204039
GWAS Ctlgrs118204039
Max Magnitude0
OMIM612386
Desc
Variant0004
Relatedalso
ClinVar
Risk rs118204039(C;C)
Alt rs118204039(C;C)
Reference rs118204039(T;T)
Significance Pathogenic
Disease Erythropoietic protoporphyria
Variation info
Gene FECH
CLNDBN Erythropoietic protoporphyria
Reversed 1
HGVS NC_000018.9:g.55217966A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000000581.4,