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rs879255507

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs879255507(A;T)
Make rs879255507(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome18
Position57551317
GeneFECH
is asnp
is mentioned by
dbSNPrs879255507
dbSNP (classic)rs879255507
ClinGenrs879255507
ebirs879255507
HLIrs879255507
Exacrs879255507
Gnomadrs879255507
Varsomers879255507
LitVarrs879255507
Maprs879255507
PheGenIrs879255507
Biobankrs879255507
1000 genomesrs879255507
hgdprs879255507
ensemblrs879255507
geneviewrs879255507
scholarrs879255507
googlers879255507
pharmgkbrs879255507
gwascentralrs879255507
openSNPrs879255507
23andMers879255507
SNPshotrs879255507
SNPdbers879255507
MSV3drs879255507
GWAS Ctlgrs879255507
Max Magnitude0
ClinVar
Risk rs879255507(T;T)
Alt rs879255507(T;T)
Reference Rs879255507(A;A)
Significance Pathogenic
Disease Erythropoietic protoporphyria
Variation info
Gene FECH
CLNDBN Erythropoietic protoporphyria
Reversed 1
HGVS NC_000018.9:g.55218549T>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000000587.4,