rs28940274

Orientation

plus

Stabilized

plus

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

Make rs28940274(C;C)

Make rs28940274(C;T)

Reference

GRCh38 38.1/141

Chromosome

11

Position

61955723

Gene

BEST1

is a	snp
is	mentioned by
dbSNP	rs28940274
dbSNP (classic)	rs28940274
ClinGen	rs28940274
ebi	rs28940274
HLI	rs28940274
Exac	rs28940274
Gnomad	rs28940274
Varsome	rs28940274
LitVar	rs28940274
Map	rs28940274
PheGenI	rs28940274
Biobank	rs28940274
1000 genomes	rs28940274
hgdp	rs28940274
ensembl	rs28940274
geneview	rs28940274
scholar	rs28940274
google	rs28940274
pharmgkb	rs28940274
gwascentral	rs28940274
openSNP	rs28940274
23andMe	rs28940274
SNPshot	rs28940274
SNPdbe	rs28940274
MSV3d	rs28940274
GWAS Ctlg	rs28940274

Max Magnitude

0

OMIM	607854
Desc	BEST MACULAR DYSTROPHY
Variant	0002
Related	also

ClinVar
Risk	rs28940274(C;C)
Alt	rs28940274(C;C)
Reference	Rs28940274(T;T)
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.61723195T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000002847.4, RCV000086109.1,