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rs764466739

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs764466739(-;-)
Make rs764466739(-;T)
ReferenceGRCh38.p2 38.2/144
Chromosome18
Position57551316
GeneFECH
is asnp
is mentioned by
dbSNPrs764466739
dbSNP (classic)rs764466739
ClinGenrs764466739
ebirs764466739
HLIrs764466739
Exacrs764466739
Gnomadrs764466739
Varsomers764466739
LitVarrs764466739
Maprs764466739
PheGenIrs764466739
Biobankrs764466739
1000 genomesrs764466739
hgdprs764466739
ensemblrs764466739
geneviewrs764466739
scholarrs764466739
googlers764466739
pharmgkbrs764466739
gwascentralrs764466739
openSNPrs764466739
23andMers764466739
SNPshotrs764466739
SNPdbers764466739
MSV3drs764466739
GWAS Ctlgrs764466739
Max Magnitude0
ClinVar
Risk rs764466739(-;-)
Alt rs764466739(-;-)
Reference Rs764466739(T;T)
Significance Pathogenic
Disease Erythropoietic protoporphyria
Variation info
Gene FECH
CLNDBN Erythropoietic protoporphyria
Reversed 0
HGVS NC_000018.9:g.55218548delT
CLNSRC OMIM Allelic Variant
CLNACC RCV000000588.4,