rs121918049

Orientation

minus

Stabilized

minus

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

Make rs121918049(C;C)

Make rs121918049(C;G)

Reference

GRCh38 38.1/141

Chromosome

15

Position

89319053

Gene

POLG

is a	snp
is	mentioned by
dbSNP	rs121918049
dbSNP (classic)	rs121918049
ClinGen	rs121918049
ebi	rs121918049
HLI	rs121918049
Exac	rs121918049
Gnomad	rs121918049
Varsome	rs121918049
LitVar	rs121918049
Map	rs121918049
PheGenI	rs121918049
Biobank	rs121918049
1000 genomes	rs121918049
hgdp	rs121918049
ensembl	rs121918049
geneview	rs121918049
scholar	rs121918049
google	rs121918049
pharmgkb	rs121918049
gwascentral	rs121918049
openSNP	rs121918049
23andMe	rs121918049
SNPshot	rs121918049
SNPdbe	rs121918049
MSV3d	rs121918049
GWAS Ctlg	rs121918049

Max Magnitude

0

OMIM	174763
Desc
Variant	0010
Related	also

ClinVar
Risk	rs121918049(A;A) rs121918049(C;C) rs121918049(T;T)
Alt	rs121918049(A;A) rs121918049(C;C) rs121918049(T;T)
Reference	Rs121918049(G;G)
Significance	Pathogenic
Disease	Sensory ataxic neuropathy not provided Progressive sclerosing poliodystrophy
Variation	info
Gene	POLG
CLNDBN	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis not provided Progressive sclerosing poliodystrophy
Reversed	1
HGVS	NC_000015.9:g.89862284C>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000014455.26, RCV000188604.2, RCV000226986.1,