rs121913037

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(A;G)	3	Carrier of a mitochondrial DNA depletion syndrome-1 mutation
(G;G)	0	common in clinvar

Make rs121913037(A;A)

Reference

GRCh38 38.1/141

Chromosome

22

Position

50528595

Gene

TYMP

is a	snp
is	mentioned by
dbSNP	rs121913037
dbSNP (classic)	rs121913037
ClinGen	rs121913037
ebi	rs121913037
HLI	rs121913037
Exac	rs121913037
Gnomad	rs121913037
Varsome	rs121913037
LitVar	rs121913037
Map	rs121913037
PheGenI	rs121913037
Biobank	rs121913037
1000 genomes	rs121913037
hgdp	rs121913037
ensembl	rs121913037
geneview	rs121913037
scholar	rs121913037
google	rs121913037
pharmgkb	rs121913037
gwascentral	rs121913037
openSNP	rs121913037
23andMe	rs121913037
SNPshot	rs121913037
SNPdbe	rs121913037
MSV3d	rs121913037
GWAS Ctlg	rs121913037

GMAF

0.0

Max Magnitude

3

aka c.433G>A (p.Gly145Arg or G145R)

OMIM	131222
Desc
Variant	0003
Related	also

ClinVar
Risk	rs121913037(A;A)
Alt	rs121913037(A;A)
Reference	Rs121913037(G;G)
Significance	Pathogenic
Disease	Mitochondrial DNA depletion syndrome 1 (MNGIE type)
Variation	info
Gene	TYMP
CLNDBN	Mitochondrial DNA depletion syndrome 1 (MNGIE type)
Reversed	1
HGVS	NC_000022.10:g.50967024C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000018135.29,