rs28941469

Orientation

plus

Stabilized

plus

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

Make rs28941469(A;A)

Make rs28941469(A;T)

Reference

GRCh38 38.1/141

Chromosome

11

Position

61957429

Gene	BEST1, LOC107984334

is a	snp
is	mentioned by
dbSNP	rs28941469
dbSNP (classic)	rs28941469
ClinGen	rs28941469
ebi	rs28941469
HLI	rs28941469
Exac	rs28941469
Gnomad	rs28941469
Varsome	rs28941469
LitVar	rs28941469
Map	rs28941469
PheGenI	rs28941469
Biobank	rs28941469
1000 genomes	rs28941469
hgdp	rs28941469
ensembl	rs28941469
geneview	rs28941469
scholar	rs28941469
google	rs28941469
pharmgkb	rs28941469
gwascentral	rs28941469
openSNP	rs28941469
23andMe	rs28941469
SNPshot	rs28941469
SNPdbe	rs28941469
MSV3d	rs28941469
GWAS Ctlg	rs28941469

Max Magnitude

0

OMIM	607854
Desc	BEST MACULAR DYSTROPHY
Variant	0004
Related	also

ClinVar
Risk	rs28941469(A;A)
Alt	rs28941469(A;A)
Reference	Rs28941469(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.61724901T>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000002850.4, RCV000086157.1,