rs28940273

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;C)	2.5
(G;G)	0	common in clinvar

Make rs28940273(C;G)

Reference

GRCh38 38.1/141

Chromosome

11

Position

61955749

Gene

BEST1

is a	snp
is	mentioned by
dbSNP	rs28940273
dbSNP (classic)	rs28940273
ClinGen	rs28940273
ebi	rs28940273
HLI	rs28940273
Exac	rs28940273
Gnomad	rs28940273
Varsome	rs28940273
LitVar	rs28940273
Map	rs28940273
PheGenI	rs28940273
Biobank	rs28940273
1000 genomes	rs28940273
hgdp	rs28940273
ensembl	rs28940273
geneview	rs28940273
scholar	rs28940273
google	rs28940273
pharmgkb	rs28940273
gwascentral	rs28940273
openSNP	rs28940273
23andMe	rs28940273
SNPshot	rs28940273
SNPdbe	rs28940273
MSV3d	rs28940273
GWAS Ctlg	rs28940273

Max Magnitude

2.5

OMIM	607854
Desc	BEST MACULAR DYSTROPHY
Variant	0001
Related	also

ClinVar
Risk	Rs28940273(C;C)
Alt	Rs28940273(C;C)
Reference	Rs28940273(G;G)
Significance	Pathogenic
Disease	Vitelliform macular dystrophy type 2 not provided
Variation	info
Gene	BEST1
CLNDBN	Vitelliform macular dystrophy type 2 not provided
Reversed	0
HGVS	NC_000011.9:g.61723221G>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000002846.3, RCV000086116.1,