rs199476123

Orientation

plus

Stabilized

plus

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

Make rs199476123(A;A)

Make rs199476123(A;G)

Reference

GRCh38.p7 38.3/150

Chromosome

MT

Position

3946

Gene

ND1

is a	snp
is	mentioned by
dbSNP	rs199476123
dbSNP (classic)	rs199476123
ClinGen	rs199476123
ebi	rs199476123
HLI	rs199476123
Exac	rs199476123
Gnomad	rs199476123
Varsome	rs199476123
LitVar	rs199476123
Map	rs199476123
PheGenI	rs199476123
Biobank	rs199476123
1000 genomes	rs199476123
hgdp	rs199476123
ensembl	rs199476123
geneview	rs199476123
scholar	rs199476123
google	rs199476123
pharmgkb	rs199476123
gwascentral	rs199476123
openSNP	rs199476123
23andMe	rs199476123
SNPshot	rs199476123
SNPdbe	rs199476123
MSV3d	rs199476123
GWAS Ctlg	rs199476123

Max Magnitude

0

ClinVar
Risk	rs199476123(A;A)
Alt	rs199476123(A;A)
Reference	Rs199476123(G;G)
Significance	Pathogenic
Disease	Juvenile myopathy
Variation	info
Gene	ND1
CLNDBN	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
Reversed	0
HGVS	NC_012920.1:m.3946G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000010387.3,