rs199476107

Orientation

plus

Stabilized

plus

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

Make rs199476107(A;A)

Make rs199476107(A;G)

Reference

GRCh38.p7 38.3/150

Chromosome

MT

Position

14453

Gene

ND6

is a	snp
is	mentioned by
dbSNP	rs199476107
dbSNP (classic)	rs199476107
ClinGen	rs199476107
ebi	rs199476107
HLI	rs199476107
Exac	rs199476107
Gnomad	rs199476107
Varsome	rs199476107
LitVar	rs199476107
Map	rs199476107
PheGenI	rs199476107
Biobank	rs199476107
1000 genomes	rs199476107
hgdp	rs199476107
ensembl	rs199476107
geneview	rs199476107
scholar	rs199476107
google	rs199476107
pharmgkb	rs199476107
gwascentral	rs199476107
openSNP	rs199476107
23andMe	rs199476107
SNPshot	rs199476107
SNPdbe	rs199476107
MSV3d	rs199476107
GWAS Ctlg	rs199476107

Max Magnitude

0

ClinVar
Risk	rs199476107(A;A)
Alt	rs199476107(A;A)
Reference	Rs199476107(G;G)
Significance	Pathogenic
Disease	Juvenile myopathy
Variation	info
Gene	ND6
CLNDBN	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
Reversed	0
HGVS	NC_012920.1:m.14453G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000010331.4,