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rs786205248

From SNPedia

Orientationminus
Geno Mag Summary
(TACAG;TACAG) 0 common in clinvar
Make rs786205248(-;-)
Make rs786205248(-;TACAG)
ReferenceGRCh38.p2 38.2/146
Chromosome18
Position57566461
GeneFECH
is asnp
is mentioned by
dbSNPrs786205248
ebirs786205248
HLIrs786205248
Exacrs786205248
Varsomers786205248
Maprs786205248
PheGenIrs786205248
hapmaprs786205248
1000 genomesrs786205248
hgdprs786205248
ensemblrs786205248
gopubmedrs786205248
geneviewrs786205248
scholarrs786205248
googlers786205248
pharmgkbrs786205248
gwascentralrs786205248
openSNPrs786205248
23andMers786205248
23andMe allrs786205248
SNP Nexus

SNPshotrs786205248
SNPdbers786205248
MSV3drs786205248
GWAS Ctlgrs786205248
Max Magnitude0
ClinVar
Risk rs786205248(;)
Alt rs786205248(;)
Reference rs786205248(TACAG;TACAG)
Significance Pathogenic
Disease Erythropoietic protoporphyria
Variation info
Gene FECH
CLNDBN Erythropoietic protoporphyria
Reversed 1
HGVS NC_000018.9:g.55233693_55233697delCTGTA
CLNSRC OMIM Allelic Variant
CLNACC RCV000000590.4,