rs1054084896

Orientation

plus

Stabilized

plus

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

Make rs1054084896(A;A)

Make rs1054084896(A;C)

Reference

GRCh38.p7 38.3/150

Chromosome

22

Position

50529598

Gene

TYMP

is a	snp
is	mentioned by
dbSNP	rs1054084896
dbSNP (classic)	rs1054084896
ClinGen	rs1054084896
ebi	rs1054084896
HLI	rs1054084896
Exac	rs1054084896
Gnomad	rs1054084896
Varsome	rs1054084896
LitVar	rs1054084896
Map	rs1054084896
PheGenI	rs1054084896
Biobank	rs1054084896
1000 genomes	rs1054084896
hgdp	rs1054084896
ensembl	rs1054084896
geneview	rs1054084896
scholar	rs1054084896
google	rs1054084896
pharmgkb	rs1054084896
gwascentral	rs1054084896
openSNP	rs1054084896
23andMe	rs1054084896
SNPshot	rs1054084896
SNPdbe	rs1054084896
MSV3d	rs1054084896
GWAS Ctlg	rs1054084896

Max Magnitude

0

ClinVar
Risk	rs1054084896(A;A)
Alt	rs1054084896(A;A)
Reference	Rs1054084896(C;C)
Significance	Pathogenic
Disease	Mitochondrial DNA depletion syndrome 1 (MNGIE type)
Variation	info
Gene	TYMP
CLNDBN	Mitochondrial DNA depletion syndrome 1 (MNGIE type)
Reversed	0
HGVS	NC_000022.10:g.50968027C>A
CLNSRC
CLNACC	RCV000208680.1,