EFHD2, EF-hand domain family member D2, 79180

N. diseases: 29; N. variants: 3
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs2473355
rs2473355
1.000 0.080 1 15423721 intron variant A/G snv 0.54
CUI: C0376670
Disease: Pancreatitis, Alcoholic
Pancreatitis, Alcoholic
Digestive System Diseases; Chemically-Induced Disorders 0.700 1.000 1 2018 2018
dbSNP: rs6695499
rs6695499
1.000 0.080 1 15429180 3 prime UTR variant G/A snv 0.21
CUI: C0376670
Disease: Pancreatitis, Alcoholic
Pancreatitis, Alcoholic
Digestive System Diseases; Chemically-Induced Disorders 0.700 1.000 1 2018 2018
dbSNP: rs112146896
rs112146896
1.000 0.040 1 15418527 intron variant A/C;G;T snv
CUI: C0003467
Disease: Anxiety
Anxiety
Behavior and Behavior Mechanisms 0.010 < 0.001 1 2018 2018
dbSNP: rs112146896
rs112146896
1.000 0.040 1 15418527 intron variant A/C;G;T snv
CUI: C0003469
Disease: Anxiety Disorders
Anxiety Disorders
Mental Disorders 0.010 < 0.001 1 2018 2018