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rs202147607

From SNPedia

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Geno Mag Summary
(T;T) 0 common in clinvar
Make rs202147607(C;C)
Make rs202147607(C;T)
ReferenceGRCh38.p2 38.2/144
Chromosome18
Position57551312
GeneFECH
is asnp
is mentioned by
dbSNPrs202147607
ebirs202147607
HLIrs202147607
Exacrs202147607
Varsomers202147607
Maprs202147607
PheGenIrs202147607
hapmaprs202147607
1000 genomesrs202147607
hgdprs202147607
ensemblrs202147607
gopubmedrs202147607
geneviewrs202147607
scholarrs202147607
googlers202147607
pharmgkbrs202147607
gwascentralrs202147607
openSNPrs202147607
23andMers202147607
23andMe allrs202147607
SNP Nexus

SNPshotrs202147607
SNPdbers202147607
MSV3drs202147607
GWAS Ctlgrs202147607
Max Magnitude0
ClinVar
Risk rs202147607(C;C)
Alt rs202147607(C;C)
Reference rs202147607(T;T)
Significance Pathogenic
Disease Erythropoietic protoporphyria
Variation info
Gene FECH
CLNDBN Erythropoietic protoporphyria
Reversed 0
HGVS NC_000018.9:g.55218544T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000000583.4,