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rs149067146

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs149067146(A;C)
Make rs149067146(C;C)
ReferenceGRCh38.p2 38.2/144
Chromosome18
Position57573244
GeneFECH
is asnp
is mentioned by
dbSNPrs149067146
dbSNP (classic)rs149067146
ClinGenrs149067146
ebirs149067146
HLIrs149067146
Exacrs149067146
Gnomadrs149067146
Varsomers149067146
LitVarrs149067146
Maprs149067146
PheGenIrs149067146
Biobankrs149067146
1000 genomesrs149067146
hgdprs149067146
ensemblrs149067146
geneviewrs149067146
scholarrs149067146
googlers149067146
pharmgkbrs149067146
gwascentralrs149067146
openSNPrs149067146
23andMers149067146
SNPshotrs149067146
SNPdbers149067146
MSV3drs149067146
GWAS Ctlgrs149067146
Max Magnitude0
ClinVar
Risk rs149067146(C;C)
Alt rs149067146(C;C)
Reference Rs149067146(A;A)
Significance Pathogenic
Disease Erythropoietic protoporphyria
Variation info
Gene FECH
CLNDBN Erythropoietic protoporphyria
Reversed 0
HGVS NC_000018.9:g.55240476A>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000000585.4,