rs1800995

Orientation

plus

Stabilized

plus

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

Make rs1800995(AA;AA)

Make rs1800995(AA;GC)

Reference

GRCh38 38.1/141

Chromosome

11

Position

61955906

Gene

BEST1

is a	snp
is	mentioned by
dbSNP	rs1800995
dbSNP (classic)	rs1800995
ClinGen	rs1800995
ebi	rs1800995
HLI	rs1800995
Exac	rs1800995
Gnomad	rs1800995
Varsome	rs1800995
LitVar	rs1800995
Map	rs1800995
PheGenI	rs1800995
Biobank	rs1800995
1000 genomes	rs1800995
hgdp	rs1800995
ensembl	rs1800995
geneview	rs1800995
scholar	rs1800995
google	rs1800995
pharmgkb	rs1800995
gwascentral	rs1800995
openSNP	rs1800995
23andMe	rs1800995
SNPshot	rs1800995
SNPdbe	rs1800995
MSV3d	rs1800995
GWAS Ctlg	rs1800995

Max Magnitude

0

OMIM	607854
Desc
Variant	0009
Related	also

ClinVar
Risk	rs1800995(AA;AA)
Alt	rs1800995(AA;AA)
Reference	Rs1800995(GC;GC)
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.61723378_61723379delGCinsAA
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000002857.4, RCV000086136.1,