rs11479

Orientation

minus

Stabilized

minus

Make rs11479(C;C)

Make rs11479(C;T)

Make rs11479(T;T)

Reference

GRCh38 38.1/141

Chromosome

22

Position

50525807

Gene	SCO2, TYMP

is a	snp
is	mentioned by
dbSNP	rs11479
dbSNP (classic)	rs11479
ClinGen	rs11479
ebi	rs11479
HLI	rs11479
Exac	rs11479
Gnomad	rs11479
Varsome	rs11479
LitVar	rs11479
Map	rs11479
PheGenI	rs11479
Biobank	rs11479
1000 genomes	rs11479
hgdp	rs11479
ensembl	rs11479
geneview	rs11479
scholar	rs11479
google	rs11479
pharmgkb	rs11479
gwascentral	rs11479
openSNP	rs11479
23andMe	rs11479
SNPshot	rs11479
SNPdbe	rs11479
MSV3d	rs11479
GWAS Ctlg	rs11479

Max Magnitude

0

[PMID 25027354] Thymidine phosphorylase gene variant, platelet counts and survival in gastrointestinal cancer patients treated by fluoropyrimidines

ClinVar
Risk	rs11479(A;A) rs11479(G;G) rs11479(T;T)
Alt	rs11479(A;A) rs11479(G;G) rs11479(T;T)
Reference	rs11479(C;C)
Significance	Other
Disease	not specified Fatal Infantile Cardioencephalomyopathy Mitochondrial DNA depletion syndrome 1 (MNGIE type)
Variation	info
Gene	TYMP SCO2
CLNDBN	not specified Fatal Infantile Cardioencephalomyopathy Mitochondrial DNA depletion syndrome 1 (MNGIE type)
Reversed	1
HGVS	NC_000022.10:g.50964236G>A; NC_000022.10:g.50964236G>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000118807.4, RCV000323507.1, RCV000403000.2, RCV000208621.1,