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: rs6651255
rs6651255
GSDMC
1.000 0.080 8 129711546 intron variant T/A;C snv
CUI: C0281899
Disease: Prolapsed lumbar disc
Prolapsed lumbar disc 		0.710 1.000 1 2017 2017
dbSNP: rs1676486
rs1676486
COL11A1
0.851 0.120 1 102888582 missense variant A/G;T snv 0.80; 4.0E-06
CUI: C0281899
Disease: Prolapsed lumbar disc
Prolapsed lumbar disc 		0.020 1.000 2 2007 2013
dbSNP: rs17576
rs17576
MMP9
0.557 0.760 20 46011586 missense variant A/G snv 0.39 0.36
CUI: C0281899
Disease: Prolapsed lumbar disc
Prolapsed lumbar disc 		0.020 1.000 2 2008 2018
dbSNP: rs10490571
rs10490571
IL1R1
0.827 0.320 2 102100877 intron variant C/T snv 0.29
CUI: C0281899
Disease: Prolapsed lumbar disc
Prolapsed lumbar disc 		0.010 1.000 1 2019 2019
dbSNP: rs10767664
rs10767664
BDNF
0.752 0.400 11 27704439 intron variant T/A snv 0.83
CUI: C0281899
Disease: Prolapsed lumbar disc
Prolapsed lumbar disc 		0.010 1.000 1 2018 2018
dbSNP: rs10998461
rs10998461
STOX1
1.000 0.080 10 68856761 intron variant G/T snv 0.44
CUI: C0281899
Disease: Prolapsed lumbar disc
Prolapsed lumbar disc 		0.010 1.000 1 2020 2020
dbSNP: rs10998468
rs10998468
STOX1
1.000 0.080 10 68867495 intron variant T/C snv 0.22
CUI: C0281899
Disease: Prolapsed lumbar disc
Prolapsed lumbar disc 		0.010 1.000 1 2020 2020
dbSNP: rs11030064
rs11030064
BDNF-AS
1.000 0.080 11 27596469 intron variant C/T snv 0.41
CUI: C0281899
Disease: Prolapsed lumbar disc
Prolapsed lumbar disc 		0.010 1.000 1 2018 2018
dbSNP: rs11030096
rs11030096
BDNF-AS
0.925 0.160 11 27643996 intron variant T/A;C snv
CUI: C0281899
Disease: Prolapsed lumbar disc
Prolapsed lumbar disc 		0.010 1.000 1 2018 2018
dbSNP: rs11030104
rs11030104
BDNF ; BDNF-AS
0.790 0.240 11 27662970 intron variant A/G snv 0.16
CUI: C0281899
Disease: Prolapsed lumbar disc
Prolapsed lumbar disc 		0.010 1.000 1 2018 2018
dbSNP: rs11066028
rs11066028
ALDH2
1.000 0.080 12 111807366 intron variant A/C snv 0.45
CUI: C0281899
Disease: Prolapsed lumbar disc
Prolapsed lumbar disc 		0.010 1.000 1 2018 2018
dbSNP: rs1400328611
rs1400328611
TNF
1.000 0.080 6 31575804 frameshift variant AG/- del
CUI: C0281899
Disease: Prolapsed lumbar disc
Prolapsed lumbar disc 		0.010 1.000 1 2011 2011
dbSNP: rs143383
rs143383
GDF5
0.724 0.320 20 35438203 5 prime UTR variant G/A snv 0.47
CUI: C0281899
Disease: Prolapsed lumbar disc
Prolapsed lumbar disc 		0.010 1.000 1 2014 2014
dbSNP: rs1799971
rs1799971
OPRM1
0.559 0.600 6 154039662 missense variant A/G snv 0.19 0.12
CUI: C0281899
Disease: Prolapsed lumbar disc
Prolapsed lumbar disc 		0.010 1.000 1 2012 2012
dbSNP: rs2615977
rs2615977
COL11A1
0.925 0.080 1 102986836 intron variant A/C snv 0.27
CUI: C0281899
Disease: Prolapsed lumbar disc
Prolapsed lumbar disc 		0.010 < 0.001 1 2013 2013
dbSNP: rs375081888
rs375081888
NOS1
0.925 0.120 12 117331048 missense variant C/T snv 2.4E-05 7.0E-06
CUI: C0281899
Disease: Prolapsed lumbar disc
Prolapsed lumbar disc 		0.010 1.000 1 2011 2011
dbSNP: rs4472827
rs4472827
STOX1
1.000 0.080 10 68892516 intron variant G/A snv 0.33
CUI: C0281899
Disease: Prolapsed lumbar disc
Prolapsed lumbar disc 		0.010 1.000 1 2020 2020
dbSNP: rs45437897
rs45437897
MMP9
1.000 0.080 20 46011590 synonymous variant C/T snv 2.0E-03 8.0E-04
CUI: C0281899
Disease: Prolapsed lumbar disc
Prolapsed lumbar disc 		0.010 1.000 1 2018 2018
dbSNP: rs4633
rs4633
COMT ; MIR4761
0.695 0.400 22 19962712 synonymous variant C/T snv 0.46 0.45
CUI: C0281899
Disease: Prolapsed lumbar disc
Prolapsed lumbar disc 		0.010 1.000 1 2018 2018
dbSNP: rs4680
rs4680
COMT ; MIR4761
0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44
CUI: C0281899
Disease: Prolapsed lumbar disc
Prolapsed lumbar disc 		0.010 1.000 1 2012 2012
dbSNP: rs62413038
rs62413038
EYS ; LOC107986608
1.000 0.080 6 63952008 intron variant T/A;G snv 0.49
CUI: C0281899
Disease: Prolapsed lumbar disc
Prolapsed lumbar disc 		0.010 1.000 1 2019 2019
dbSNP: rs6265
rs6265
BDNF ; BDNF-AS
0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15
CUI: C0281899
Disease: Prolapsed lumbar disc
Prolapsed lumbar disc 		0.010 1.000 1 2018 2018
dbSNP: rs671
rs671
ALDH2
0.529 0.840 12 111803962 missense variant G/A snv 1.9E-02 5.8E-03
CUI: C0281899
Disease: Prolapsed lumbar disc
Prolapsed lumbar disc 		0.010 1.000 1 2018 2018
dbSNP: rs7296651
rs7296651
ALDH2
0.925 0.160 12 111809150 intron variant C/A;G snv
CUI: C0281899
Disease: Prolapsed lumbar disc
Prolapsed lumbar disc 		0.010 1.000 1 2018 2018
dbSNP: rs7481311
rs7481311
BDNF-AS
0.925 0.160 11 27561582 intron variant T/C snv 0.75
CUI: C0281899
Disease: Prolapsed lumbar disc
Prolapsed lumbar disc 		0.010 1.000 1 2018 2018