rs1109748

Orientation

plus

Stabilized

plus

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

Make rs1109748(A;A)

Make rs1109748(A;C)

Reference

GRCh38 38.1/141

Chromosome

11

Position

61955173

Gene

BEST1

is a	snp
is	mentioned by
dbSNP	rs1109748
dbSNP (classic)	rs1109748
ClinGen	rs1109748
ebi	rs1109748
HLI	rs1109748
Exac	rs1109748
Gnomad	rs1109748
Varsome	rs1109748
LitVar	rs1109748
Map	rs1109748
PheGenI	rs1109748
Biobank	rs1109748
1000 genomes	rs1109748
hgdp	rs1109748
ensembl	rs1109748
geneview	rs1109748
scholar	rs1109748
google	rs1109748
pharmgkb	rs1109748
gwascentral	rs1109748
openSNP	rs1109748
23andMe	rs1109748
SNPshot	rs1109748
SNPdbe	rs1109748
MSV3d	rs1109748
GWAS Ctlg	rs1109748

GMAF

0.2741

Max Magnitude

0

?	(A;A) (A;C) (C;C)	28

GWAS snp
PMID	[PMID 21829377]
Trait
Title	Genetic Loci Associated with Plasma Phospholipid n-3 Fatty Acids: A Meta-Analysis of Genome-Wide Association Studies from the CHARGE Consortium.
Risk Allele	A
P-val	5E-9
Odds Ratio	0.0500 [NR] % decrease

ClinVar
Risk	rs1109748(A;A)
Alt	rs1109748(A;A)
Reference	Rs1109748(C;C)
Significance	Non-pathogenic
Disease	not provided not specified Vitelliform macular dystrophy type 2 Retinitis Pigmentosa Vitreoretinochoroidopathy
Variation	info
Gene	BEST1
CLNDBN	not provided not specified Vitelliform macular dystrophy type 2 Retinitis Pigmentosa, Recessive Vitreoretinochoroidopathy
Reversed	0
HGVS	NC_000011.9:g.61722645C>A
CLNSRC	ClinVar Retina International
CLNACC	RCV000086102.1, RCV000152862.4, RCV000266568.1, RCV000320491.1, RCV000377486.1,