rs200536754

Orientation

plus

Stabilized

plus

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

Make rs200536754(-;-)

Make rs200536754(-;A)

Reference

GRCh38.p2 38.2/144

Chromosome

2

Position

55867067

Gene

EFEMP1

is a	snp
is	mentioned by
dbSNP	rs200536754
dbSNP (classic)	rs200536754
ClinGen	rs200536754
ebi	rs200536754
HLI	rs200536754
Exac	rs200536754
Gnomad	rs200536754
Varsome	rs200536754
LitVar	rs200536754
Map	rs200536754
PheGenI	rs200536754
Biobank	rs200536754
1000 genomes	rs200536754
hgdp	rs200536754
ensembl	rs200536754
geneview	rs200536754
scholar	rs200536754
google	rs200536754
pharmgkb	rs200536754
gwascentral	rs200536754
openSNP	rs200536754
23andMe	rs200536754
SNPshot	rs200536754
SNPdbe	rs200536754
MSV3d	rs200536754
GWAS Ctlg	rs200536754

Max Magnitude

0

ClinVar
Risk	rs200536754(-;-)
Alt	rs200536754(-;-)
Reference	Rs200536754(A;A)
Significance	Other
Disease	not specified Doyne honeycomb retinal dystrophy
Variation	info
Gene	EFEMP1
CLNDBN	not specified Doyne honeycomb retinal dystrophy
Reversed	0
HGVS	NC_000002.11:g.56094202delA
CLNSRC
CLNACC	RCV000174268.2, RCV000348125.1,