rs28940278

Orientation

plus

Stabilized

plus

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

Make rs28940278(A;A)

Make rs28940278(A;G)

Reference

GRCh38 38.1/141

Chromosome

11

Position

61951946

Gene

BEST1

is a	snp
is	mentioned by
dbSNP	rs28940278
dbSNP (classic)	rs28940278
ClinGen	rs28940278
ebi	rs28940278
HLI	rs28940278
Exac	rs28940278
Gnomad	rs28940278
Varsome	rs28940278
LitVar	rs28940278
Map	rs28940278
PheGenI	rs28940278
Biobank	rs28940278
1000 genomes	rs28940278
hgdp	rs28940278
ensembl	rs28940278
geneview	rs28940278
scholar	rs28940278
google	rs28940278
pharmgkb	rs28940278
gwascentral	rs28940278
openSNP	rs28940278
23andMe	rs28940278
SNPshot	rs28940278
SNPdbe	rs28940278
MSV3d	rs28940278
GWAS Ctlg	rs28940278

Max Magnitude

0

OMIM	607854
Desc	VITELLIFORM MACULAR DYSTROPHY, ADULT-ONSET
Variant	0011
Related	also

ClinVar
Risk	rs28940278(A;A)
Alt	rs28940278(A;A)
Reference	Rs28940278(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.61719418G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000002860.4, RCV000086086.1,