rs28940275

Orientation

plus

Stabilized

plus

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

Make rs28940275(A;C)

Make rs28940275(C;C)

Reference

GRCh38 38.1/141

Chromosome

11

Position

61951822

Gene

BEST1

is a	snp
is	mentioned by
dbSNP	rs28940275
dbSNP (classic)	rs28940275
ClinGen	rs28940275
ebi	rs28940275
HLI	rs28940275
Exac	rs28940275
Gnomad	rs28940275
Varsome	rs28940275
LitVar	rs28940275
Map	rs28940275
PheGenI	rs28940275
Biobank	rs28940275
1000 genomes	rs28940275
hgdp	rs28940275
ensembl	rs28940275
geneview	rs28940275
scholar	rs28940275
google	rs28940275
pharmgkb	rs28940275
gwascentral	rs28940275
openSNP	rs28940275
23andMe	rs28940275
SNPshot	rs28940275
SNPdbe	rs28940275
MSV3d	rs28940275
GWAS Ctlg	rs28940275

Max Magnitude

0

OMIM	607854
Desc	BEST MACULAR DYSTROPHY
Variant	0005
Related	also

ClinVar
Risk	rs28940275(C;C)
Alt	rs28940275(C;C)
Reference	Rs28940275(A;A)
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.61719294A>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000002851.3, RCV000086095.1,