rs121918056

Orientation

minus

Stabilized

minus

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

Make rs121918056(C;T)

Make rs121918056(T;T)

Reference

GRCh38 38.1/141

Chromosome

15

Position

89330257

Gene

POLG

is a	snp
is	mentioned by
dbSNP	rs121918056
dbSNP (classic)	rs121918056
ClinGen	rs121918056
ebi	rs121918056
HLI	rs121918056
Exac	rs121918056
Gnomad	rs121918056
Varsome	rs121918056
LitVar	rs121918056
Map	rs121918056
PheGenI	rs121918056
Biobank	rs121918056
1000 genomes	rs121918056
hgdp	rs121918056
ensembl	rs121918056
geneview	rs121918056
scholar	rs121918056
google	rs121918056
pharmgkb	rs121918056
gwascentral	rs121918056
openSNP	rs121918056
23andMe	rs121918056
SNPshot	rs121918056
SNPdbe	rs121918056
MSV3d	rs121918056
GWAS Ctlg	rs121918056

Max Magnitude

0

OMIM	174763
Desc
Variant	0021
Related	also

ClinVar
Risk	rs121918056(T;T)
Alt	rs121918056(T;T)
Reference	Rs121918056(C;C)
Significance	Pathogenic
Disease	Mitochondrial DNA depletion syndrome 4B not provided
Variation	info
Gene	POLG
CLNDBN	Mitochondrial DNA depletion syndrome 4B, MNGIE type not provided
Reversed	1
HGVS	NC_000015.9:g.89873488G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000014469.19, RCV000255169.2,