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: rs4622329
rs4622329
1.000 0.080 12 101928157 intron variant G/A snv 0.46
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic
Skin and Connective Tissue Diseases; Immune System Diseases 0.800 1.000 1 2013 2013
dbSNP: rs12371834
rs12371834
12 101954023 intron variant C/T snv 0.32
CUI: C0005890
Disease: Body Height
Body Height
0.700 1.000 1 2019 2019
dbSNP: rs4337094
rs4337094
0.925 0.040 12 101948325 intron variant G/A snv 0.29
CUI: C0410702
Disease: Adolescent idiopathic scoliosis
Adolescent idiopathic scoliosis
Musculoskeletal Diseases 0.700 1.000 1 2018 2018
dbSNP: rs4337094
rs4337094
0.925 0.040 12 101948325 intron variant G/A snv 0.29
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
0.700 1.000 1 2018 2018
dbSNP: rs75127467
rs75127467
12 101947099 intron variant A/C snv 0.28
CUI: C0005890
Disease: Body Height
Body Height
0.700 1.000 1 2017 2017
dbSNP: rs7964241
rs7964241
1.000 0.080 12 101944457 intron variant A/G snv 0.31
CUI: C0007766
Disease: Intracranial Aneurysm
Intracranial Aneurysm
Nervous System Diseases; Cardiovascular Diseases 0.700 1.000 1 2019 2019
dbSNP: rs7971536
rs7971536
12 101980010 intron variant T/A snv 0.47
CUI: C0489786
Disease: Height
Height
0.700 1.000 1 2010 2010
dbSNP: rs7971536
rs7971536
12 101980010 intron variant T/A snv 0.47
CUI: C0005890
Disease: Body Height
Body Height
0.700 1.000 1 2010 2010
dbSNP: rs10860812
rs10860812
12 101894592 intron variant G/A snv 0.59
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
Cardiovascular Diseases 0.010 1.000 1 2013 2013