rs3184504, SH2B3;ATXN2

N. diseases: 92
Disease: Autoimmune hepatitis ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Autoimmune hepatitis
CUI: C4721555
Disease: Autoimmune hepatitis
0.020 GeneticVariation BEFREE Genome-wide association analyses in Caucasians have linked a missense mutation at rs3184504 in SH2B3 with AIH. 28703133 2017
Autoimmune hepatitis
CUI: C4721555
Disease: Autoimmune hepatitis
0.020 GeneticVariation BEFREE We also associated AIH with variants of SH2B3 (rs3184504, 12q24; P = 7.7 × 10(-8)) and CARD10 (rs6000782, 22q13.1; P = 3.0 × 10(-6)). 24768677 2014