Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs6570507
rs6570507
0.827 0.240 6 142358435 intron variant G/A snv 0.47
CUI: C0410702
Disease: Adolescent idiopathic scoliosis
Adolescent idiopathic scoliosis
0.810 1.000 3 2013 2018
dbSNP: rs6570507
rs6570507
0.827 0.240 6 142358435 intron variant G/A snv 0.47
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified
0.800 1.000 1 2013 2013
dbSNP: rs793888525
rs793888525
0.925 0.080 6 142408187 missense variant T/A snv
LETHAL CONGENITAL CONTRACTURE SYNDROME 9
0.800 0
dbSNP: rs6570507
rs6570507
0.827 0.240 6 142358435 intron variant G/A snv 0.47
CUI: C0005890
Disease: Body Height
Body Height
0.700 1.000 4 2009 2019
dbSNP: rs4896582
rs4896582
6 142382740 intron variant G/A snv 0.50
CUI: C0005890
Disease: Body Height
Body Height
0.700 1.000 3 2008 2019
dbSNP: rs9399401
rs9399401
1.000 0.040 6 142347764 intron variant T/C snv 0.31
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease
0.700 1.000 3 2017 2019
dbSNP: rs3748069
rs3748069
6 142446496 downstream gene variant A/G snv 0.39
CUI: C0005890
Disease: Body Height
Body Height
0.700 1.000 2 2008 2019
dbSNP: rs3817928
rs3817928
6 142429379 intron variant A/G snv 0.20
CUI: C0035227
Disease: Respiratory Function Tests
Respiratory Function Tests
0.700 1.000 2 2010 2012
dbSNP: rs6570507
rs6570507
0.827 0.240 6 142358435 intron variant G/A snv 0.47
CUI: C0489786
Disease: Height
Height
0.700 1.000 2 2009 2010
dbSNP: rs6922607
rs6922607
6 142382346 intron variant A/G snv 0.22
CUI: C1305855
Disease: Body mass index
Body mass index
0.700 1.000 2 2019 2019
dbSNP: rs7741741
rs7741741
0.925 0.040 6 142334664 intron variant T/A;G snv
CUI: C0005890
Disease: Body Height
Body Height
0.700 1.000 2 2013 2019
dbSNP: rs7753012
rs7753012
6 142424746 intron variant T/G snv 0.50
CUI: C0016529
Disease: Forced expiratory volume function
Forced expiratory volume function
0.700 1.000 2 2017 2019
dbSNP: rs1040525
rs1040525
6 142382532 intron variant C/A;G;T snv
CUI: C0231921
Disease: Pulmonary function
Pulmonary function
0.700 1.000 1 2010 2010
dbSNP: rs1040525
rs1040525
6 142382532 intron variant C/A;G;T snv
CUI: C3160731
Disease: Pulmonary function (finding)
Pulmonary function (finding)
0.700 1.000 1 2010 2010
dbSNP: rs1040526
rs1040526
6 142414679 intron variant A/G snv 0.40
CUI: C0231921
Disease: Pulmonary function
Pulmonary function
0.700 1.000 1 2010 2010
dbSNP: rs1040526
rs1040526
6 142414679 intron variant A/G snv 0.40
CUI: C3160731
Disease: Pulmonary function (finding)
Pulmonary function (finding)
0.700 1.000 1 2010 2010
dbSNP: rs10484733
rs10484733
6 142389851 intron variant C/G snv 0.21
CUI: C3160731
Disease: Pulmonary function (finding)
Pulmonary function (finding)
0.700 1.000 1 2010 2010
dbSNP: rs10484733
rs10484733
6 142389851 intron variant C/G snv 0.21
CUI: C0231921
Disease: Pulmonary function
Pulmonary function
0.700 1.000 1 2010 2010
dbSNP: rs11155242
rs11155242
6 142370412 missense variant A/C snv 0.19 0.20
CUI: C0231921
Disease: Pulmonary function
Pulmonary function
0.700 1.000 1 2010 2010
dbSNP: rs11155242
rs11155242
6 142370412 missense variant A/C snv 0.19 0.20
CUI: C3160731
Disease: Pulmonary function (finding)
Pulmonary function (finding)
0.700 1.000 1 2010 2010
dbSNP: rs113096699
rs113096699
6 142424746 intron variant -/G ins
CUI: C0231921
Disease: Pulmonary function
Pulmonary function
0.700 1.000 1 2010 2010
dbSNP: rs113096699
rs113096699
6 142424746 intron variant -/G ins
CUI: C3160731
Disease: Pulmonary function (finding)
Pulmonary function (finding)
0.700 1.000 1 2010 2010
dbSNP: rs11759653
rs11759653
6 142399217 intron variant G/A snv 0.21
CUI: C3160731
Disease: Pulmonary function (finding)
Pulmonary function (finding)
0.700 1.000 1 2010 2010
dbSNP: rs11759653
rs11759653
6 142399217 intron variant G/A snv 0.21
CUI: C0231921
Disease: Pulmonary function
Pulmonary function
0.700 1.000 1 2010 2010
dbSNP: rs12190271
rs12190271
6 142360272 intron variant G/A snv 0.20
CUI: C0231921
Disease: Pulmonary function
Pulmonary function
0.700 1.000 1 2010 2010