rs28940570

Orientation

plus

Stabilized

plus

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

Make rs28940570(C;T)

Make rs28940570(T;T)

Reference

GRCh38 38.1/141

Chromosome

11

Position

61958159

Gene	BEST1, LOC107984334

is a	snp
is	mentioned by
dbSNP	rs28940570
dbSNP (classic)	rs28940570
ClinGen	rs28940570
ebi	rs28940570
HLI	rs28940570
Exac	rs28940570
Gnomad	rs28940570
Varsome	rs28940570
LitVar	rs28940570
Map	rs28940570
PheGenI	rs28940570
Biobank	rs28940570
1000 genomes	rs28940570
hgdp	rs28940570
ensembl	rs28940570
geneview	rs28940570
scholar	rs28940570
google	rs28940570
pharmgkb	rs28940570
gwascentral	rs28940570
openSNP	rs28940570
23andMe	rs28940570
SNPshot	rs28940570
SNPdbe	rs28940570
MSV3d	rs28940570
GWAS Ctlg	rs28940570

Max Magnitude

0

OMIM	607854
Desc	BEST MACULAR DYSTROPHY
Variant	0010
Related	also

ClinVar
Risk	rs28940570(T;T)
Alt	rs28940570(T;T)
Reference	Rs28940570(C;C)
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.61725631C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000002858.3, RCV000086167.1,