rs199474658

Orientation

plus

Stabilized

plus

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

Make rs199474658(C;C)

Make rs199474658(C;T)

Reference

GRCh38.p7 38.3/150

Chromosome

MT

Position

3271

is a	snp
is	mentioned by
dbSNP	rs199474658
dbSNP (classic)	rs199474658
ClinGen	rs199474658
ebi	rs199474658
HLI	rs199474658
Exac	rs199474658
Gnomad	rs199474658
Varsome	rs199474658
LitVar	rs199474658
Map	rs199474658
PheGenI	rs199474658
Biobank	rs199474658
1000 genomes	rs199474658
hgdp	rs199474658
ensembl	rs199474658
geneview	rs199474658
scholar	rs199474658
google	rs199474658
pharmgkb	rs199474658
gwascentral	rs199474658
openSNP	rs199474658
23andMe	rs199474658
SNPshot	rs199474658
SNPdbe	rs199474658
MSV3d	rs199474658
GWAS Ctlg	rs199474658

Max Magnitude

0

ClinVar
Risk	rs199474658(C;C)
Alt	rs199474658(C;C)
Reference	Rs199474658(T;T)
Significance	Pathogenic
Disease	Juvenile myopathy
Variation	info
Gene
CLNDBN	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
Reversed	0
HGVS	NC_012920.1:m.3271T>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000010212.4,