rs199476122

Orientation

plus

Stabilized

plus

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

Make rs199476122(A;A)

Make rs199476122(A;G)

Reference

GRCh38.p7 38.3/150

Chromosome

MT

Position

3697

Gene

ND1

is a	snp
is	mentioned by
dbSNP	rs199476122
dbSNP (classic)	rs199476122
ClinGen	rs199476122
ebi	rs199476122
HLI	rs199476122
Exac	rs199476122
Gnomad	rs199476122
Varsome	rs199476122
LitVar	rs199476122
Map	rs199476122
PheGenI	rs199476122
Biobank	rs199476122
1000 genomes	rs199476122
hgdp	rs199476122
ensembl	rs199476122
geneview	rs199476122
scholar	rs199476122
google	rs199476122
pharmgkb	rs199476122
gwascentral	rs199476122
openSNP	rs199476122
23andMe	rs199476122
SNPshot	rs199476122
SNPdbe	rs199476122
MSV3d	rs199476122
GWAS Ctlg	rs199476122

Max Magnitude

0

ClinVar
Risk	rs199476122(A;A)
Alt	rs199476122(A;A)
Reference	Rs199476122(G;G)
Significance	Pathogenic
Disease	Juvenile myopathy Leber hereditary optic neuropathy with dystonia Leber's optic atrophy
Variation	info
Gene	ND1
CLNDBN	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke Leber hereditary optic neuropathy with dystonia Leber's optic atrophy
Reversed	0
HGVS	NC_012920.1:m.3697G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000010385.4, RCV000010386.2, RCV000056168.1,