rs121434491

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(C;C)	0	common in clinvar

Make rs121434491(C;T)

Make rs121434491(T;T)

Reference

GRCh38 38.1/141

Chromosome

2

Position

55871091

Gene

EFEMP1

is a	snp
is	mentioned by
dbSNP	rs121434491
dbSNP (classic)	rs121434491
ClinGen	rs121434491
ebi	rs121434491
HLI	rs121434491
Exac	rs121434491
Gnomad	rs121434491
Varsome	rs121434491
LitVar	rs121434491
Map	rs121434491
PheGenI	rs121434491
Biobank	rs121434491
1000 genomes	rs121434491
hgdp	rs121434491
ensembl	rs121434491
geneview	rs121434491
scholar	rs121434491
google	rs121434491
pharmgkb	rs121434491
gwascentral	rs121434491
openSNP	rs121434491
23andMe	rs121434491
SNPshot	rs121434491
SNPdbe	rs121434491
MSV3d	rs121434491
GWAS Ctlg	rs121434491

Max Magnitude

0

OMIM	601548
Desc
Variant	0001
Related	also

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 UniProtKB (protein)
CLNACC	RCV000008538.4, RCV000008539.3,