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rs786205245

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs786205245(A;A)
Make rs786205245(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome18
Position57554259
GeneFECH
is asnp
is mentioned by
dbSNPrs786205245
dbSNP (classic)rs786205245
ClinGenrs786205245
ebirs786205245
HLIrs786205245
Exacrs786205245
Gnomadrs786205245
Varsomers786205245
LitVarrs786205245
Maprs786205245
PheGenIrs786205245
Biobankrs786205245
1000 genomesrs786205245
hgdprs786205245
ensemblrs786205245
geneviewrs786205245
scholarrs786205245
googlers786205245
pharmgkbrs786205245
gwascentralrs786205245
openSNPrs786205245
23andMers786205245
SNPshotrs786205245
SNPdbers786205245
MSV3drs786205245
GWAS Ctlgrs786205245
Max Magnitude0
ClinVar
Risk rs786205245(A;A)
Alt rs786205245(A;A)
Reference Rs786205245(G;G)
Significance Pathogenic
Disease Erythropoietic protoporphyria
Variation info
Gene FECH
CLNDBN Erythropoietic protoporphyria
Reversed 1
HGVS NC_000018.9:g.55221491C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000000582.4,