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rs397514476

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs397514476(A;A)
Make rs397514476(A;G)
ReferenceGRCh38 38.1/141
Chromosome18
Position57566492
GeneFECH
is asnp
is mentioned by
dbSNPrs397514476
dbSNP (classic)rs397514476
ClinGenrs397514476
ebirs397514476
HLIrs397514476
Exacrs397514476
Gnomadrs397514476
Varsomers397514476
LitVarrs397514476
Maprs397514476
PheGenIrs397514476
Biobankrs397514476
1000 genomesrs397514476
hgdprs397514476
ensemblrs397514476
geneviewrs397514476
scholarrs397514476
googlers397514476
pharmgkbrs397514476
gwascentralrs397514476
openSNPrs397514476
23andMers397514476
SNPshotrs397514476
SNPdbers397514476
MSV3drs397514476
GWAS Ctlgrs397514476
Max Magnitude0
ClinVar
Risk rs397514476(A;A)
Alt rs397514476(A;A)
Reference Rs397514476(G;G)
Significance Pathogenic
Disease Erythropoietic protoporphyria
Variation info
Gene FECH
CLNDBN Erythropoietic protoporphyria
Reversed 1
HGVS NC_000018.9:g.55233724C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000023941.3,