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rs2269219

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs2269219(C;T)
Make rs2269219(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome18
Position57580222
GeneFECH
is asnp
is mentioned by
dbSNPrs2269219
ebirs2269219
HLIrs2269219
Exacrs2269219
Varsomers2269219
Maprs2269219
PheGenIrs2269219
hapmaprs2269219
1000 genomesrs2269219
hgdprs2269219
ensemblrs2269219
gopubmedrs2269219
geneviewrs2269219
scholarrs2269219
googlers2269219
pharmgkbrs2269219
gwascentralrs2269219
openSNPrs2269219
23andMers2269219
23andMe allrs2269219
SNP Nexus

SNPshotrs2269219
SNPdbers2269219
MSV3drs2269219
GWAS Ctlgrs2269219
Max Magnitude0
ClinVar
Risk rs2269219(T;T)
Alt rs2269219(T;T)
Reference rs2269219(C;C)
Significance Pathogenic
Disease Erythropoietic protoporphyria
Variation info
Gene FECH
CLNDBN Erythropoietic protoporphyria
Reversed 1
HGVS NC_000018.9:g.55247454G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000000580.3,