rs387906424

Orientation

plus

Stabilized

plus

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

Make rs387906424(A;T)

Make rs387906424(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

MT

Position

14596

Gene

ND6

is a	snp
is	mentioned by
dbSNP	rs387906424
dbSNP (classic)	rs387906424
ClinGen	rs387906424
ebi	rs387906424
HLI	rs387906424
Exac	rs387906424
Gnomad	rs387906424
Varsome	rs387906424
LitVar	rs387906424
Map	rs387906424
PheGenI	rs387906424
Biobank	rs387906424
1000 genomes	rs387906424
hgdp	rs387906424
ensembl	rs387906424
geneview	rs387906424
scholar	rs387906424
google	rs387906424
pharmgkb	rs387906424
gwascentral	rs387906424
openSNP	rs387906424
23andMe	rs387906424
SNPshot	rs387906424
SNPdbe	rs387906424
MSV3d	rs387906424
GWAS Ctlg	rs387906424

Max Magnitude

0

ClinVar
Risk	rs387906424(T;T)
Alt	rs387906424(T;T)
Reference	Rs387906424(A;A)
Significance	Pathogenic
Disease	Leber hereditary optic neuropathy with dystonia Leber's optic atrophy
Variation	info
Gene	ND6
CLNDBN	Leber hereditary optic neuropathy with dystonia Leber's optic atrophy
Reversed	0
HGVS	NC_012920.1:m.14596A>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000010329.2, RCV000055704.1,