rs121918050

Orientation

minus

Stabilized

minus

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

Make rs121918050(A;G)

Make rs121918050(G;G)

Reference

GRCh38 38.1/141

Chromosome

15

Position

89321743

Gene

POLG

is a	snp
is	mentioned by
dbSNP	rs121918050
dbSNP (classic)	rs121918050
ClinGen	rs121918050
ebi	rs121918050
HLI	rs121918050
Exac	rs121918050
Gnomad	rs121918050
Varsome	rs121918050
LitVar	rs121918050
Map	rs121918050
PheGenI	rs121918050
Biobank	rs121918050
1000 genomes	rs121918050
hgdp	rs121918050
ensembl	rs121918050
geneview	rs121918050
scholar	rs121918050
google	rs121918050
pharmgkb	rs121918050
gwascentral	rs121918050
openSNP	rs121918050
23andMe	rs121918050
SNPshot	rs121918050
SNPdbe	rs121918050
MSV3d	rs121918050
GWAS Ctlg	rs121918050

Max Magnitude

0

OMIM	174763
Desc
Variant	0012
Related	also

ClinVar
Risk	rs121918050(G;G)
Alt	rs121918050(G;G)
Reference	Rs121918050(A;A)
Significance	Pathogenic
Disease	Mitochondrial DNA depletion syndrome 4B
Variation	info
Gene	POLG
CLNDBN	Mitochondrial DNA depletion syndrome 4B, MNGIE type
Reversed	1
HGVS	NC_000015.9:g.89864974T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000014458.26,