Promethease 0.1.82

Rs1044498

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dbSNPrs1044498
hapmaprs1044498
hgdprs1044498
ensemblrs1044498
gopubmedrs1044498
scholarrs1044498
googlers1044498
pharmgkbrs1044498
hgvbaseg2prs1044498
medrefsnprs1044498
23andMers1044498
SNP Nexus

GeneENPP1
Chromosome6
Orientationplus
Position132214061
GenotypeEffect
rs1044498(A;A)*?
rs1044498(A;C)*?
rs1044498(C;C)*?



? (A;A) (A;C) (C;C)

blog ENPP1 harbors a mutation with a derived state known to protect against obesity and type II diabetes27 that is present in 90% of non-Africans but virtually absent in Africans

[PMID 18426862] K121Q (rs1044498) The Q allele of ENPP1 K121Q is associated with hyperglycemia and insulin resistance in whites. increased fasting plasma glucose (FPG), A1C, fasting insulin, and insulin resistance by homeostasis model assessment (HOMA-IR; all P = 0.01-0.006).

[PMID 19399648] Possible role for ENPP1 polymorphism in obesity but not for INSIG2 and PLIN variants

[PMID 19656007] Genetic Variants of the ENPP1/PC-1 Gene Are Associated with Hypertriglyceridemia in Male Subjects

[PMID 20091022] The ENPP1 K121Q polymorphism determines individual susceptibility to the insulin-sensitising effect of lifestyle intervention

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