rs121434453

Orientation

plus

Stabilized

plus

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

Make rs121434453(C;C)

Make rs121434453(C;T)

Reference

GRCh38.p7 38.3/150

Chromosome

MT

Position

14709

is a	snp
is	mentioned by
dbSNP	rs121434453
dbSNP (classic)	rs121434453
ClinGen	rs121434453
ebi	rs121434453
HLI	rs121434453
Exac	rs121434453
Gnomad	rs121434453
Varsome	rs121434453
LitVar	rs121434453
Map	rs121434453
PheGenI	rs121434453
Biobank	rs121434453
1000 genomes	rs121434453
hgdp	rs121434453
ensembl	rs121434453
geneview	rs121434453
scholar	rs121434453
google	rs121434453
pharmgkb	rs121434453
gwascentral	rs121434453
openSNP	rs121434453
23andMe	rs121434453
SNPshot	rs121434453
SNPdbe	rs121434453
MSV3d	rs121434453
GWAS Ctlg	rs121434453

Max Magnitude

0

ClinVar
Risk	rs121434453(C;C)
Alt	rs121434453(C;C)
Reference	Rs121434453(T;T)
Significance	Pathogenic
Disease	Myopathy Diabetes-deafness syndrome maternally transmitted
Variation	info
Gene
CLNDBN	Myopathy, mitochondrial, with diabetes mellitus Diabetes-deafness syndrome maternally transmitted
Reversed	0
HGVS	NC_012920.1:m.14709T>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000010241.2, RCV000032996.4,