rs199476108

Orientation

plus

Stabilized

plus

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

Make rs199476108(A;A)

Make rs199476108(A;C)

Reference

GRCh38.p7 38.3/150

Chromosome

MT

Position

14482

Gene

ND6

is a	snp
is	mentioned by
dbSNP	rs199476108
dbSNP (classic)	rs199476108
ClinGen	rs199476108
ebi	rs199476108
HLI	rs199476108
Exac	rs199476108
Gnomad	rs199476108
Varsome	rs199476108
LitVar	rs199476108
Map	rs199476108
PheGenI	rs199476108
Biobank	rs199476108
1000 genomes	rs199476108
hgdp	rs199476108
ensembl	rs199476108
geneview	rs199476108
scholar	rs199476108
google	rs199476108
pharmgkb	rs199476108
gwascentral	rs199476108
openSNP	rs199476108
23andMe	rs199476108
SNPshot	rs199476108
SNPdbe	rs199476108
MSV3d	rs199476108
GWAS Ctlg	rs199476108

GMAF

0.002806

Max Magnitude

0

ClinVar
Risk	rs199476108(A;A) rs199476108(G;G)
Alt	rs199476108(A;A) rs199476108(G;G)
Reference	Rs199476108(C;C)
Significance	Pathogenic
Disease	Leber's optic atrophy
Variation	info
Gene	ND6
CLNDBN	Leber's optic atrophy
Reversed	0
HGVS	NC_012920.1:m.14482C>A; NC_012920.1:m.14482C>G
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000010332.2, RCV000055701.1,