rs200277476

Orientation

plus

Stabilized

plus

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

Make rs200277476(C;T)

Make rs200277476(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

11

Position

61956946

Gene	BEST1, LOC107984334

is a	snp
is	mentioned by
dbSNP	rs200277476
dbSNP (classic)	rs200277476
ClinGen	rs200277476
ebi	rs200277476
HLI	rs200277476
Exac	rs200277476
Gnomad	rs200277476
Varsome	rs200277476
LitVar	rs200277476
Map	rs200277476
PheGenI	rs200277476
Biobank	rs200277476
1000 genomes	rs200277476
hgdp	rs200277476
ensembl	rs200277476
geneview	rs200277476
scholar	rs200277476
google	rs200277476
pharmgkb	rs200277476
gwascentral	rs200277476
openSNP	rs200277476
23andMe	rs200277476
SNPshot	rs200277476
SNPdbe	rs200277476
MSV3d	rs200277476
GWAS Ctlg	rs200277476

Max Magnitude

0

ClinVar
Risk	rs200277476(T;T)
Alt	rs200277476(T;T)
Reference	Rs200277476(C;C)
Significance	Probable-Pathogenic
Disease	not provided Bestrophinopathy
Variation	info
Gene	BEST1
CLNDBN	not provided Bestrophinopathy, autosomal recessive
Reversed	0
HGVS	NC_000011.9:g.61724418C>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000086140.1, RCV000490256.1,