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rs118204040

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs118204040(G;G)
Make rs118204040(G;T)
ReferenceGRCh38 38.1/141
Chromosome18
Position57551367
GeneFECH
is asnp
is mentioned by
dbSNPrs118204040
ebirs118204040
HLIrs118204040
Exacrs118204040
Varsomers118204040
Maprs118204040
PheGenIrs118204040
hapmaprs118204040
1000 genomesrs118204040
hgdprs118204040
ensemblrs118204040
gopubmedrs118204040
geneviewrs118204040
scholarrs118204040
googlers118204040
pharmgkbrs118204040
gwascentralrs118204040
openSNPrs118204040
23andMers118204040
23andMe allrs118204040
SNP Nexus

SNPshotrs118204040
SNPdbers118204040
MSV3drs118204040
GWAS Ctlgrs118204040
Max Magnitude0
OMIM612386
Desc
Variant0007
Relatedalso
ClinVar
Risk rs118204040(G;G)
Alt rs118204040(G;G)
Reference rs118204040(T;T)
Significance Pathogenic
Disease Erythropoietic protoporphyria
Variation info
Gene FECH
CLNDBN Erythropoietic protoporphyria
Reversed 1
HGVS NC_000018.9:g.55218599A>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000000584.4,