rs121918290

Orientation

plus

Stabilized

plus

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

Make rs121918290(A;A)

Make rs121918290(A;G)

Reference

GRCh38 38.1/142

Chromosome

11

Position

61958146

Gene	BEST1, LOC107984334

is a	snp
is	mentioned by
dbSNP	rs121918290
dbSNP (classic)	rs121918290
ClinGen	rs121918290
ebi	rs121918290
HLI	rs121918290
Exac	rs121918290
Gnomad	rs121918290
Varsome	rs121918290
LitVar	rs121918290
Map	rs121918290
PheGenI	rs121918290
Biobank	rs121918290
1000 genomes	rs121918290
hgdp	rs121918290
ensembl	rs121918290
geneview	rs121918290
scholar	rs121918290
google	rs121918290
pharmgkb	rs121918290
gwascentral	rs121918290
openSNP	rs121918290
23andMe	rs121918290
SNPshot	rs121918290
SNPdbe	rs121918290
MSV3d	rs121918290
GWAS Ctlg	rs121918290

Max Magnitude

0

OMIM	607854
Desc
Variant	0020
Related	also

ClinVar
Risk	rs121918290(A;A) rs121918290(T;T)
Alt	rs121918290(A;A) rs121918290(T;T)
Reference	Rs121918290(G;G)
Significance	Pathogenic
Disease	Microcornea
Variation	info
Gene	BEST1
CLNDBN	Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma
Reversed	0
HGVS	NC_000011.9:g.61725618G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000002868.2,