rs12203596 - STMND1

Magnitude 4.5 · 1 study on file

Reported associations

• Genome-Wide Association Study Confirming a Strong Effect of HLA and Identifying Variants in on Chromosome 12q13.13 Associated With Susceptibility to Fulminant Type 1 Diabetes. - Diabetes (2019) · Kawabata Y, Nishida N, Awata T, Kawasaki E, Imagawa A, Shimada A, Osawa H, Tanaka S, Takahashi K, Nagata M, Yasuda H, Uchigata Y, Kajio H, Makino H, Yasuda K, Kobayashi T, Hanafusa T, Tokunaga K, Ikegami H · PubMed 30552108

  The first genome-wide association study of fulminant type 1 diabetes was performed in Japanese individuals. As previously reported using a candidate gene approach, a strong association was observed with multiple single nucleotide polymorphisms (SNPs) in the HLA region, and the strongest association was observed with rs9268853 in the class II DR region ( = 1.56 × 10 , odds ratio [OR] 3.18). In addition, rs11170445 in on chromosome 12q13.13 showed an association at a genome-wide significance level ( = 7.58 × 10 , OR 1.96). Fine mapping of the region revealed that rs3782151 in showed the lowest value ( = 4.60 × 10 , OR 1.97 [95% CI 1.57-2.48]). The risk allele of rs3782151 is a expression quantitative trait locus for that significantly increases the expression of this gene. was found to be

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