rs121918047

Orientation

minus

Stabilized

minus

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

Make rs121918047(G;T)

Make rs121918047(T;T)

Reference

GRCh38 38.1/141

Chromosome

15

Position

89321242

Gene

POLG

is a	snp
is	mentioned by
dbSNP	rs121918047
dbSNP (classic)	rs121918047
ClinGen	rs121918047
ebi	rs121918047
HLI	rs121918047
Exac	rs121918047
Gnomad	rs121918047
Varsome	rs121918047
LitVar	rs121918047
Map	rs121918047
PheGenI	rs121918047
Biobank	rs121918047
1000 genomes	rs121918047
hgdp	rs121918047
ensembl	rs121918047
geneview	rs121918047
scholar	rs121918047
google	rs121918047
pharmgkb	rs121918047
gwascentral	rs121918047
openSNP	rs121918047
23andMe	rs121918047
SNPshot	rs121918047
SNPdbe	rs121918047
MSV3d	rs121918047
GWAS Ctlg	rs121918047

Max Magnitude

0

OMIM	174763
Desc
Variant	0008
Related	also

ClinVar
Risk	rs121918047(T;T)
Alt	rs121918047(T;T)
Reference	Rs121918047(G;G)
Significance	Pathogenic
Disease	Progressive sclerosing poliodystrophy
Variation	info
Gene	POLG
CLNDBN	Progressive sclerosing poliodystrophy
Reversed	1
HGVS	NC_000015.9:g.89864473C>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000014453.25,