rs199476113

Orientation

plus

Stabilized

plus

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

Make rs199476113(A;G)

Make rs199476113(G;G)

Reference

GRCh38.p7 38.3/150

Chromosome

MT

Position

11084

Gene

ND4

is a	snp
is	mentioned by
dbSNP	rs199476113
dbSNP (classic)	rs199476113
ClinGen	rs199476113
ebi	rs199476113
HLI	rs199476113
Exac	rs199476113
Gnomad	rs199476113
Varsome	rs199476113
LitVar	rs199476113
Map	rs199476113
PheGenI	rs199476113
Biobank	rs199476113
1000 genomes	rs199476113
hgdp	rs199476113
ensembl	rs199476113
geneview	rs199476113
scholar	rs199476113
google	rs199476113
pharmgkb	rs199476113
gwascentral	rs199476113
openSNP	rs199476113
23andMe	rs199476113
SNPshot	rs199476113
SNPdbe	rs199476113
MSV3d	rs199476113
GWAS Ctlg	rs199476113

GMAF

0.004677

Max Magnitude

0

ClinVar
Risk	rs199476113(G;G)
Alt	rs199476113(G;G)
Reference	Rs199476113(A;A)
Significance	Pathogenic
Disease	Juvenile myopathy
Variation	info
Gene	ND4
CLNDBN	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
Reversed	0
HGVS	NC_012920.1:m.11084A>G
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000010355.3,