rs28357980

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(A;A)	0	normal
(A;G)		2x increased risk for age-related macular degeneration
(G;G)		2x risk of age related macular degeneration

Reference

GRCh38.p7 38.3/150

Chromosome

MT

Position

4917

Gene

ND2

is a	snp
is	mentioned by
dbSNP	rs28357980
dbSNP (classic)	rs28357980
ClinGen	rs28357980
ebi	rs28357980
HLI	rs28357980
Exac	rs28357980
Gnomad	rs28357980
Varsome	rs28357980
LitVar	rs28357980
Map	rs28357980
PheGenI	rs28357980
Biobank	rs28357980
1000 genomes	rs28357980
hgdp	rs28357980
ensembl	rs28357980
geneview	rs28357980
scholar	rs28357980
google	rs28357980
pharmgkb	rs28357980
gwascentral	rs28357980
openSNP	rs28357980
23andMe	rs28357980
SNPshot	rs28357980
SNPdbe	rs28357980
MSV3d	rs28357980
GWAS Ctlg	rs28357980

GMAF

0.03461

Max Magnitude

0

?	(A;A) (A;G) (G;G)	28

Also known as mitochondrial SNP 4917G.

PLoS This SNP predicts the presence of age related macular degeneration (odds ratio = 2.16, CI: 1.20-3.91, p = 0.01).

ThinkGene coverage

ClinVar
Risk	Rs28357980(G;G)
Alt	Rs28357980(G;G)
Reference	Rs28357980(A;A)
Significance	Unknown
Disease	Leber's optic atrophy
Variation	info
Gene	ND2
CLNDBN	Leber's optic atrophy
Reversed	0
HGVS	NC_012920.1:m.4917A>G
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000010364.1,