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rs1617640

From SNPedia

Orientationminus
Stabilizedminus
Make rs1617640(G;G)
Make rs1617640(G;T)
Make rs1617640(T;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position100719675
GeneEPO
is asnp
is mentioned by
dbSNPrs1617640
ebirs1617640
HLIrs1617640
Exacrs1617640
Varsomers1617640
Maprs1617640
PheGenIrs1617640
hapmaprs1617640
1000 genomesrs1617640
hgdprs1617640
ensemblrs1617640
gopubmedrs1617640
geneviewrs1617640
scholarrs1617640
googlers1617640
pharmgkbrs1617640
gwascentralrs1617640
openSNPrs1617640
23andMers1617640
23andMe allrs1617640
SNP Nexus

SNPshotrs1617640
SNPdbers1617640
MSV3drs1617640
GWAS Ctlgrs1617640
GMAF0.3379
Max Magnitude
? (G;G) (G;T) (T;T) 28
[PMID 18458324OA-icon.png] the T allele of SNP rs1617640 in the promoter of the EPO gene is significantly associated with Proliferative diabetic retinopathy (PDR) and end stage renal disease (ESRD). The EPO concentration in human vitreous body was 7.5-fold higher in normal subjects with the TT risk genotype than in those with the GG genotype.
OMIM612623
DescMICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 2; MVCD2
Variant
Relatedalso
OMIM133170
DescERYTHROPOIETIN; EPO
Variant
Relatedalso


[PMID 20065225] Association between erythropoietin gene polymorphisms and diabetic retinopathy


[PMID 21092038] Relation between renal dysfunction requiring renal replacement therapy and promoter polymorphism of the erythropoietin gene in cardiac surgery

OMIM133170
Desc
Variant0001
Relatedalso
[PMID 22669473OA-icon.png] Common variants of the genes encoding erythropoietin and its receptor modulate cognitive performance in schizophrenia.


GET Evidence
rs1617640
aa_change
aa_change_short
impact pharmacogenetic
qualified_impact Insufficiently evaluated pharmacogenetic
overall_frequency 0.666667
summary



[PMID 23142128] Association between polymorphisms in erythropoietin gene and upper limit haematocrit levels among regular blood donors


[PMID 22843933] The functional polymorphism of erythropoietin gene rs1617640 G>T is not associated with susceptibility and clinical outcome of early-stage breast cancer.


[PMID 24821155] Single nucleotide polymorphisms at erythropoietin, superoxide dismutase 1, splicing factor, arginine/serin-rich 15 and plasmacytoma variant translocation genes association with diabetic nephropathy


ClinVar
Risk rs1617640(T;T)
Alt rs1617640(T;T)
Reference rs1617640(G;G)
Significance Other
Disease Microvascular complications of diabetes 2
Variation info
Gene EPO
CLNDBN Microvascular complications of diabetes 2
Reversed 1
HGVS NC_000007.13:g.100317298C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000018073.2,



[PMID 25656761] Genetic disposition and modifiable factors independently associated with anemia in patients with type 2 diabetes mellitus


[PMID 25675872] Association of erythropoietin gene polymorphisms with retinopathy in a Chinese cohort with type 2 diabetes mellitus