rs199476124

Orientation

plus

Stabilized

plus

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

Make rs199476124(C;C)

Make rs199476124(C;T)

Reference

GRCh38.p7 38.3/150

Chromosome

MT

Position

3949

Gene

ND1

is a	snp
is	mentioned by
dbSNP	rs199476124
dbSNP (classic)	rs199476124
ClinGen	rs199476124
ebi	rs199476124
HLI	rs199476124
Exac	rs199476124
Gnomad	rs199476124
Varsome	rs199476124
LitVar	rs199476124
Map	rs199476124
PheGenI	rs199476124
Biobank	rs199476124
1000 genomes	rs199476124
hgdp	rs199476124
ensembl	rs199476124
geneview	rs199476124
scholar	rs199476124
google	rs199476124
pharmgkb	rs199476124
gwascentral	rs199476124
openSNP	rs199476124
23andMe	rs199476124
SNPshot	rs199476124
SNPdbe	rs199476124
MSV3d	rs199476124
GWAS Ctlg	rs199476124

Max Magnitude

0

ClinVar
Risk	rs199476124(C;C)
Alt	rs199476124(C;C)
Reference	Rs199476124(T;T)
Significance	Pathogenic
Disease	Juvenile myopathy
Variation	info
Gene	ND1
CLNDBN	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
Reversed	0
HGVS	NC_012920.1:m.3949T>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000010388.2,