rs121918286

Orientation

plus

Stabilized

plus

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

Make rs121918286(C;T)

Make rs121918286(T;T)

Reference

GRCh38 38.1/141

Chromosome

11

Position

61956960

Gene	BEST1, LOC107984334

is a	snp
is	mentioned by
dbSNP	rs121918286
dbSNP (classic)	rs121918286
ClinGen	rs121918286
ebi	rs121918286
HLI	rs121918286
Exac	rs121918286
Gnomad	rs121918286
Varsome	rs121918286
LitVar	rs121918286
Map	rs121918286
PheGenI	rs121918286
Biobank	rs121918286
1000 genomes	rs121918286
hgdp	rs121918286
ensembl	rs121918286
geneview	rs121918286
scholar	rs121918286
google	rs121918286
pharmgkb	rs121918286
gwascentral	rs121918286
openSNP	rs121918286
23andMe	rs121918286
SNPshot	rs121918286
SNPdbe	rs121918286
MSV3d	rs121918286
GWAS Ctlg	rs121918286

Max Magnitude

0

OMIM	607854
Desc
Variant	0015
Related	also

ClinVar
Risk	rs121918286(T;T)
Alt	rs121918286(T;T)
Reference	Rs121918286(C;C)
Significance	Pathogenic
Disease	Bestrophinopathy
Variation	info
Gene	BEST1
CLNDBN	Bestrophinopathy, autosomal recessive
Reversed	0
HGVS	NC_000011.9:g.61724432C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000002864.3,