rs121918283

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(ATC;ATC)	0	common in clinvar
(I;I)	0	common genotype
(TCA;TCA)	0	common in clinvar

Make rs121918283(-;-)

Make rs121918283(-;ATC)

Reference

GRCh38 38.1/141

Chromosome

11

Position

61959513

Gene	BEST1, LOC107984334

is a	snp
is	mentioned by
dbSNP	rs121918283
dbSNP (classic)	rs121918283
ClinGen	rs121918283
ebi	rs121918283
HLI	rs121918283
Exac	rs121918283
Gnomad	rs121918283
Varsome	rs121918283
LitVar	rs121918283
Map	rs121918283
PheGenI	rs121918283
Biobank	rs121918283
1000 genomes	rs121918283
hgdp	rs121918283
ensembl	rs121918283
geneview	rs121918283
scholar	rs121918283
google	rs121918283
pharmgkb	rs121918283
gwascentral	rs121918283
openSNP	rs121918283
23andMe	rs121918283
SNPshot	rs121918283
SNPdbe	rs121918283
MSV3d	rs121918283
GWAS Ctlg	rs121918283

Merged from

Rs281865252

Max Magnitude

0

OMIM	607854
Desc
Variant	0006
Related	also

ClinVar
Risk	rs121918283(-;-) Rs121918283(TCA;TCA)
Alt	rs121918283(-;-) Rs121918283(TCA;TCA)
Reference	Rs121918283(ATC;ATC)
Significance	Pathogenic
Disease	Vitelliform macular dystrophy type 2 not provided
Variation	info
Gene	BEST1
CLNDBN	Vitelliform macular dystrophy type 2 not provided
Reversed	0
HGVS	NC_000011.9:g.61726986_61726988delTCA
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000002854.4, RCV000086179.1,