rs11065904, SH2B3;ATXN2

N. diseases: 4
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Blood urea nitrogen measurement
CUI: C0005845
Disease: Blood urea nitrogen measurement
0.700 GeneticVariation GWASCAT A catalog of genetic loci associated with kidney function from analyses of a million individuals. 31152163 2019
Autoimmune Chronic Hepatitis
CUI: C0241910
Disease: Autoimmune Chronic Hepatitis
0.010 GeneticVariation BEFREE Although the functional rs3184504 was non-polymorphic in 952 subjects, the frequency of the minor rs11065904 T allele was significantly decreased in AIH patients compared with healthy controls (odds ratio (OR)=0.68; corrected P=0.025). 28703133 2017
Autoimmune pancreatitis
CUI: C2609129
Disease: Autoimmune pancreatitis
0.010 GeneticVariation BEFREE Haplotype 2 (rs2238154 A, rs11065904 T and rs739496 G) was associated with resistance to AIH (OR 0.67, P=0.021) as well as to autoimmune pancreatitis (OR=0.70, P=0.035). 28703133 2017
Autoimmune hepatitis
CUI: C4721555
Disease: Autoimmune hepatitis
0.010 GeneticVariation BEFREE Although the functional rs3184504 was non-polymorphic in 952 subjects, the frequency of the minor rs11065904 T allele was significantly decreased in AIH patients compared with healthy controls (odds ratio (OR)=0.68; corrected P=0.025). 28703133 2017