rs199529046

Orientation

plus

Stabilized

plus

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

Make rs199529046(C;C)

Make rs199529046(C;T)

Reference

GRCh38.p2 38.2/144

Chromosome

11

Position

61956964

Gene	BEST1, LOC107984334

is a	snp
is	mentioned by
dbSNP	rs199529046
dbSNP (classic)	rs199529046
ClinGen	rs199529046
ebi	rs199529046
HLI	rs199529046
Exac	rs199529046
Gnomad	rs199529046
Varsome	rs199529046
LitVar	rs199529046
Map	rs199529046
PheGenI	rs199529046
Biobank	rs199529046
1000 genomes	rs199529046
hgdp	rs199529046
ensembl	rs199529046
geneview	rs199529046
scholar	rs199529046
google	rs199529046
pharmgkb	rs199529046
gwascentral	rs199529046
openSNP	rs199529046
23andMe	rs199529046
SNPshot	rs199529046
SNPdbe	rs199529046
MSV3d	rs199529046
GWAS Ctlg	rs199529046

Max Magnitude

0

ClinVar
Risk	rs199529046(C;C) rs199529046(G;G)
Alt	rs199529046(C;C) rs199529046(G;G)
Reference	Rs199529046(T;T)
Significance	Probable-Pathogenic
Disease	not provided Bestrophinopathy BEST1-Related Disorders Retinitis Pigmentosa Vitreoretinochoroidopathy
Variation	info
Gene	BEST1
CLNDBN	not provided Bestrophinopathy, autosomal recessive BEST1-Related Disorders Retinitis Pigmentosa, Recessive Vitreoretinochoroidopathy
Reversed	0
HGVS	NC_000011.9:g.61724436T>C
CLNSRC	UniProtKB (protein)
CLNACC	RCV000086141.1, RCV000169651.1, RCV000312619.1, RCV000344091.1, RCV000408002.1,