rs28931613

Orientation

minus

Stabilized

minus

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

Make rs28931613(A;A)

Make rs28931613(A;G)

Reference

GRCh38 38.1/141

Chromosome

22

Position

50529579

Gene

TYMP

is a	snp
is	mentioned by
dbSNP	rs28931613
dbSNP (classic)	rs28931613
ClinGen	rs28931613
ebi	rs28931613
HLI	rs28931613
Exac	rs28931613
Gnomad	rs28931613
Varsome	rs28931613
LitVar	rs28931613
Map	rs28931613
PheGenI	rs28931613
Biobank	rs28931613
1000 genomes	rs28931613
hgdp	rs28931613
ensembl	rs28931613
geneview	rs28931613
scholar	rs28931613
google	rs28931613
pharmgkb	rs28931613
gwascentral	rs28931613
openSNP	rs28931613
23andMe	rs28931613
SNPshot	rs28931613
SNPdbe	rs28931613
MSV3d	rs28931613
GWAS Ctlg	rs28931613

Max Magnitude

0

OMIM	131222
Desc	MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOMYOPATHY SYNDROME
Variant	0009
Related	also

ClinVar
Risk	rs28931613(A;A)
Alt	rs28931613(A;A)
Reference	Rs28931613(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.50968008C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000018141.29,