rs121918052

Orientation

minus

Stabilized

minus

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

Make rs121918052(C;C)

Make rs121918052(C;G)

Reference

GRCh38 38.1/141

Chromosome

15

Position

89327006

Gene	MIR6766, POLG

is a	snp
is	mentioned by
dbSNP	rs121918052
dbSNP (classic)	rs121918052
ClinGen	rs121918052
ebi	rs121918052
HLI	rs121918052
Exac	rs121918052
Gnomad	rs121918052
Varsome	rs121918052
LitVar	rs121918052
Map	rs121918052
PheGenI	rs121918052
Biobank	rs121918052
1000 genomes	rs121918052
hgdp	rs121918052
ensembl	rs121918052
geneview	rs121918052
scholar	rs121918052
google	rs121918052
pharmgkb	rs121918052
gwascentral	rs121918052
openSNP	rs121918052
23andMe	rs121918052
SNPshot	rs121918052
SNPdbe	rs121918052
MSV3d	rs121918052
GWAS Ctlg	rs121918052

Max Magnitude

0

OMIM	174763
Desc
Variant	0016
Related	also

ClinVar
Risk	rs121918052(A;A) rs121918052(C;C)
Alt	rs121918052(A;A) rs121918052(C;C)
Reference	Rs121918052(G;G)
Significance	Pathogenic
Disease	Myoclonic epilepsy myopathy sensory ataxia Charcot-Marie-Tooth disease not specified
Variation	info
Gene	MIR6766 POLG
CLNDBN	Myoclonic epilepsy myopathy sensory ataxia Charcot-Marie-Tooth disease not specified
Reversed	1
HGVS	NC_000015.9:g.89870237C>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000014464.25, RCV000144870.2, RCV000188660.2,