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rs786205246

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs786205246(A;C)
Make rs786205246(C;C)
ReferenceGRCh38.p2 38.2/146
Chromosome18
Position57573240
GeneFECH
is asnp
is mentioned by
dbSNPrs786205246
dbSNP (classic)rs786205246
ClinGenrs786205246
ebirs786205246
HLIrs786205246
Exacrs786205246
Gnomadrs786205246
Varsomers786205246
LitVarrs786205246
Maprs786205246
PheGenIrs786205246
Biobankrs786205246
1000 genomesrs786205246
hgdprs786205246
ensemblrs786205246
geneviewrs786205246
scholarrs786205246
googlers786205246
pharmgkbrs786205246
gwascentralrs786205246
openSNPrs786205246
23andMers786205246
SNPshotrs786205246
SNPdbers786205246
MSV3drs786205246
GWAS Ctlgrs786205246
Max Magnitude0
ClinVar
Risk rs786205246(C;C)
Alt rs786205246(C;C)
Reference Rs786205246(A;A)
Significance Pathogenic
Disease Erythropoietic protoporphyria
Variation info
Gene FECH
CLNDBN Erythropoietic protoporphyria
Reversed 1
HGVS NC_000018.9:g.55240472T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000000586.4,