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: rs7533552
rs7533552
COL9A2
0.882 0.160 1 40307477 missense variant T/A;C;G snv
CUI: C0221775
Disease: Lumbar disc disease
Lumbar disc disease 		0.030 0.333 3 2014 2018
dbSNP: rs12077871
rs12077871
COL9A2
0.925 0.160 1 40307478 stop gained G/A;T snv 3.1E-02; 4.0E-06
CUI: C0221775
Disease: Lumbar disc disease
Lumbar disc disease 		0.020 < 0.001 2 2014 2018
dbSNP: rs12722877
rs12722877
COL9A2
0.925 0.160 1 40307451 missense variant G/A;C snv
CUI: C0221775
Disease: Lumbar disc disease
Lumbar disc disease 		0.020 < 0.001 2 2014 2018
dbSNP: rs143383
rs143383
GDF5
0.724 0.320 20 35438203 5 prime UTR variant G/A snv 0.47
CUI: C0221775
Disease: Lumbar disc disease
Lumbar disc disease 		0.020 0.500 2 2011 2018
dbSNP: rs2073711
rs2073711
CILP
0.807 0.160 15 65201874 missense variant A/G snv 0.56 0.61
CUI: C0221775
Disease: Lumbar disc disease
Lumbar disc disease 		0.020 1.000 2 2005 2018
dbSNP: rs2228570
rs2228570
VDR
0.521 0.760 12 47879112 start lost A/C;G;T snv 0.63
CUI: C0221775
Disease: Lumbar disc disease
Lumbar disc disease 		0.020 1.000 2 2018 2019
dbSNP: rs1254394380
rs1254394380
COL11A1
0.882 0.160 1 102888618 stop gained G/A snv
CUI: C0221775
Disease: Lumbar disc disease
Lumbar disc disease 		0.010 1.000 1 2018 2018
dbSNP: rs1304037
rs1304037
IL1A
0.882 0.200 2 112774659 3 prime UTR variant T/C snv 0.32
CUI: C0221775
Disease: Lumbar disc disease
Lumbar disc disease 		0.010 1.000 1 2017 2017
dbSNP: rs1337185
rs1337185
COL11A1
0.851 0.160 1 103079209 intron variant C/G;T snv 0.15
CUI: C0221775
Disease: Lumbar disc disease
Lumbar disc disease 		0.010 1.000 1 2017 2017
dbSNP: rs1420106
rs1420106
IL18RAP
0.851 0.200 2 102418584 upstream gene variant A/G snv 0.78
CUI: C0221775
Disease: Lumbar disc disease
Lumbar disc disease 		0.010 1.000 1 2019 2019
dbSNP: rs1524107
rs1524107
IL6 ; IL6-AS1
0.827 0.320 7 22728600 non coding transcript exon variant C/T snv 9.4E-02
CUI: C0221775
Disease: Lumbar disc disease
Lumbar disc disease 		0.010 1.000 1 2017 2017
dbSNP: rs162509
rs162509
ADAMTS5 ; MIR4759
0.925 0.160 21 26953456 intron variant C/A;G snv
CUI: C0221775
Disease: Lumbar disc disease
Lumbar disc disease 		0.010 1.000 1 2017 2017
dbSNP: rs17561
rs17561
IL1A
0.672 0.560 2 112779646 missense variant C/A snv 0.27 0.26
CUI: C0221775
Disease: Lumbar disc disease
Lumbar disc disease 		0.010 1.000 1 2017 2017
dbSNP: rs1800587
rs1800587
IL1A
0.620 0.720 2 112785383 upstream gene variant G/A;C snv 0.32
CUI: C0221775
Disease: Lumbar disc disease
Lumbar disc disease 		0.010 1.000 1 2017 2017
dbSNP: rs1800796
rs1800796
IL6 ; STEAP1B ; IL6-AS1
0.555 0.760 7 22726627 non coding transcript exon variant G/C snv 9.9E-02
CUI: C0221775
Disease: Lumbar disc disease
Lumbar disc disease 		0.010 1.000 1 2017 2017
dbSNP: rs20575
rs20575
TNFRSF10A
0.645 0.440 8 23201811 missense variant C/G snv 0.54 0.44
CUI: C0221775
Disease: Lumbar disc disease
Lumbar disc disease 		0.010 1.000 1 2012 2012
dbSNP: rs2069840
rs2069840
IL6 ; IL6-AS1
0.742 0.360 7 22728953 intron variant C/G snv 0.27
CUI: C0221775
Disease: Lumbar disc disease
Lumbar disc disease 		0.010 1.000 1 2017 2017
dbSNP: rs2243250
rs2243250
IL4
0.570 0.760 5 132673462 upstream gene variant C/T snv 0.35
CUI: C0221775
Disease: Lumbar disc disease
Lumbar disc disease 		0.010 1.000 1 2017 2017
dbSNP: rs226794
rs226794
ADAMTS5
0.882 0.160 21 26930036 missense variant A/G snv 0.83 0.89
CUI: C0221775
Disease: Lumbar disc disease
Lumbar disc disease 		0.010 1.000 1 2017 2017
dbSNP: rs2856836
rs2856836
IL1A
0.763 0.280 2 112774506 3 prime UTR variant A/G snv 0.26
CUI: C0221775
Disease: Lumbar disc disease
Lumbar disc disease 		0.010 1.000 1 2017 2017
dbSNP: rs34884997
rs34884997
ADAMTS4
0.925 0.160 1 161191082 3 prime UTR variant T/C snv 0.12
CUI: C0221775
Disease: Lumbar disc disease
Lumbar disc disease 		0.010 1.000 1 2017 2017
dbSNP: rs41270041
rs41270041
ADAMTS4
0.925 0.160 1 161191494 missense variant G/C snv 9.1E-02 9.0E-02
CUI: C0221775
Disease: Lumbar disc disease
Lumbar disc disease 		0.010 1.000 1 2017 2017
dbSNP: rs4871857
rs4871857
TNFRSF10A
0.851 0.200 8 23201811 missense variant C/G snv
CUI: C0221775
Disease: Lumbar disc disease
Lumbar disc disease 		0.010 1.000 1 2012 2012
dbSNP: rs591058
rs591058
MMP3
0.882 0.160 11 102840607 intron variant T/C snv 0.58 0.57
CUI: C0221775
Disease: Lumbar disc disease
Lumbar disc disease 		0.010 1.000 1 2018 2018
dbSNP: rs61734651
rs61734651
COL9A3
0.882 0.280 20 62819980 missense variant C/T snv 4.7E-02 4.5E-02
CUI: C0221775
Disease: Lumbar disc disease
Lumbar disc disease 		0.010 < 0.001 1 2018 2018