rs113994100

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(G;T)	3	Carrier of a POLG mutation
(T;T)	0	common in clinvar

Make rs113994100(G;G)

Reference

GRCh38 38.1/141

Chromosome

15

Position

89317531

Gene	FANCI, POLG

is a	snp
is	mentioned by
dbSNP	rs113994100
dbSNP (classic)	rs113994100
ClinGen	rs113994100
ebi	rs113994100
HLI	rs113994100
Exac	rs113994100
Gnomad	rs113994100
Varsome	rs113994100
LitVar	rs113994100
Map	rs113994100
PheGenI	rs113994100
Biobank	rs113994100
1000 genomes	rs113994100
hgdp	rs113994100
ensembl	rs113994100
geneview	rs113994100
scholar	rs113994100
google	rs113994100
pharmgkb	rs113994100
gwascentral	rs113994100
openSNP	rs113994100
23andMe	rs113994100
SNPshot	rs113994100
SNPdbe	rs113994100
MSV3d	rs113994100
GWAS Ctlg	rs113994100

Max Magnitude

3

ClinVar
Risk	rs113994100(C;C) rs113994100(G;G)
Alt	rs113994100(C;C) rs113994100(G;G)
Reference	Rs113994100(T;T)
Significance	Pathogenic
Disease	Mitochondrial diseases not provided
Variation	info
Gene	POLG FANCI
CLNDBN	Mitochondrial diseases not provided
Reversed	1
HGVS	NC_000015.9:g.89860762A>C; NC_000015.9:g.89860762A>G
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000020478.1, RCV000188682.1,