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rs3848519

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 4 erythropoietic protoporphyria likely
(A;C) 3 carrier for an erythropoietic protoporphyria mutation
(C;C) 0 common in complete genomics
ReferenceGRCh38 38.1/141
Chromosome18
Position57580104
GeneFECH
is asnp
is mentioned by
dbSNPrs3848519
ebirs3848519
HLIrs3848519
Exacrs3848519
Varsomers3848519
Maprs3848519
PheGenIrs3848519
hapmaprs3848519
1000 genomesrs3848519
hgdprs3848519
ensemblrs3848519
gopubmedrs3848519
geneviewrs3848519
scholarrs3848519
googlers3848519
pharmgkbrs3848519
gwascentralrs3848519
openSNPrs3848519
23andMers3848519
23andMe allrs3848519
SNP Nexus

SNPshotrs3848519
SNPdbers3848519
MSV3drs3848519
GWAS Ctlgrs3848519
GMAF0.01607
Max Magnitude4
? (A;A) (A;C) (C;C) 28
OMIM612386
Desc
Variant0001
Relatedalso


ClinVar
Risk rs3848519(A;A)
Alt rs3848519(A;A)
Reference rs3848519(C;C)
Significance Pathogenic
Disease Erythropoietic protoporphyria
Variation info
Gene FECH
CLNDBN Erythropoietic protoporphyria
Reversed 0
HGVS NC_000018.9:g.55247336C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000000578.3,



GET Evidence
FECH-G55C
aa_change Gly55Cys
aa_change_short G55C
impact pathogenic
qualified_impact Insufficiently evaluated pathogenic
overall_frequency 0.0177542
summary