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rs121434491

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121434491(C;T)
Make rs121434491(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position55871091
GeneEFEMP1
is asnp
is mentioned by
dbSNPrs121434491
ebirs121434491
HLIrs121434491
Exacrs121434491
Varsomers121434491
Maprs121434491
PheGenIrs121434491
hapmaprs121434491
1000 genomesrs121434491
hgdprs121434491
ensemblrs121434491
gopubmedrs121434491
geneviewrs121434491
scholarrs121434491
googlers121434491
pharmgkbrs121434491
gwascentralrs121434491
openSNPrs121434491
23andMers121434491
23andMe allrs121434491
SNP Nexus

SNPshotrs121434491
SNPdbers121434491
MSV3drs121434491
GWAS Ctlgrs121434491
Max Magnitude0
OMIM601548
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121434491(T;T)
Alt rs121434491(T;T)
Reference rs121434491(C;C)
Significance Pathogenic
Disease Malattia leventinese Doyne honeycomb retinal dystrophy
Variation info
Gene EFEMP1
CLNDBN Malattia leventinese Doyne honeycomb retinal dystrophy
Reversed 1
HGVS NC_000002.11:g.56098226G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000008538.4, RCV000008539.3,