rs121918287

Orientation

plus

Stabilized

plus

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

Make rs121918287(A;A)

Make rs121918287(A;G)

Reference

GRCh38 38.1/141

Chromosome

11

Position

61959892

Gene	BEST1, LOC107984334

is a	snp
is	mentioned by
dbSNP	rs121918287
dbSNP (classic)	rs121918287
ClinGen	rs121918287
ebi	rs121918287
HLI	rs121918287
Exac	rs121918287
Gnomad	rs121918287
Varsome	rs121918287
LitVar	rs121918287
Map	rs121918287
PheGenI	rs121918287
Biobank	rs121918287
1000 genomes	rs121918287
hgdp	rs121918287
ensembl	rs121918287
geneview	rs121918287
scholar	rs121918287
google	rs121918287
pharmgkb	rs121918287
gwascentral	rs121918287
openSNP	rs121918287
23andMe	rs121918287
SNPshot	rs121918287
SNPdbe	rs121918287
MSV3d	rs121918287
GWAS Ctlg	rs121918287

Max Magnitude

0

OMIM	607854
Desc
Variant	0017
Related	also

ClinVar
Risk	rs121918287(A;A)
Alt	rs121918287(A;A)
Reference	Rs121918287(G;G)
Significance	Pathogenic
Disease	Bestrophinopathy
Variation	info
Gene	BEST1
CLNDBN	Bestrophinopathy, autosomal recessive
Reversed	0
HGVS	NC_000011.9:g.61727364G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000002865.4,