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: rs12901404
rs12901404
RYR3
1.000 0.040 15 33783099 intron variant T/C snv 0.16
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis 		0.700 1.000 1 2009 2009
dbSNP: rs1801282
rs1801282
PPARG
0.500 0.840 3 12351626 missense variant C/G snv 0.11 8.9E-02
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis 		0.010 1.000 1 2009 2009
dbSNP: rs1805192
rs1805192
PPARG
0.510 0.840 3 12379739 missense variant C/G snv
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis 		0.010 1.000 1 2009 2009
dbSNP: rs2276455
rs2276455
COL2A1 ; LOC105369752
1.000 0.040 12 47982354 intron variant G/A snv 0.38
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis 		0.010 1.000 1 2009 2009
dbSNP: rs3737548
rs3737548
COL2A1
1.000 0.040 12 47997633 synonymous variant G/A;T snv 8.1E-06; 0.21
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis 		0.010 1.000 1 2009 2009
dbSNP: rs7164503
rs7164503
ANP32A
0.925 0.040 15 68789051 intron variant T/C snv 0.27
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis 		0.010 1.000 1 2009 2009
dbSNP: rs10947262
rs10947262
BTNL2 ; TSBP1-AS1
0.925 0.040 6 32405535 non coding transcript exon variant C/T snv 0.12
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis 		0.020 0.500 2 2010 2011
dbSNP: rs16944
rs16944
IL1B
0.531 0.920 2 112837290 upstream gene variant A/G snv 0.57
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis 		0.020 1.000 2 2010 2013
dbSNP: rs2234693
rs2234693
ESR1
0.555 0.680 6 151842200 intron variant T/C snv 0.47
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis 		0.020 1.000 2 2010 2015
dbSNP: rs7775228
rs7775228 		0.790 0.360 6 32690302 TF binding site variant T/C snv 0.15
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis 		0.020 0.500 2 2010 2011
dbSNP: rs1062033
rs1062033
CYP19A1 ; MIR4713HG
1.000 0.040 15 51255741 5 prime UTR variant C/G snv 0.35
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis 		0.010 1.000 1 2010 2010
dbSNP: rs1143627
rs1143627
IL1B
0.605 0.760 2 112836810 5 prime UTR variant G/A snv 0.56
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis 		0.010 1.000 1 2010 2010
dbSNP: rs11965969
rs11965969
COL10A1 ; NT5DC1
1.000 0.040 6 116131040 intron variant T/G snv 0.50
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis 		0.010 1.000 1 2010 2010
dbSNP: rs2287047
rs2287047
IL1R1
1.000 0.040 2 102157594 intron variant G/A snv 0.39
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis 		0.010 1.000 1 2010 2010
dbSNP: rs3815148
rs3815148
COG5
1.000 0.040 7 107297975 intron variant A/C snv 0.20
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis 		0.810 1.000 1 2010 2010
dbSNP: rs419598
rs419598
IL1RN
0.742 0.280 2 113129630 synonymous variant T/C snv 0.26 0.21
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis 		0.010 1.000 1 2010 2010
dbSNP: rs11842874
rs11842874
MCF2L
1.000 0.040 13 113040195 intron variant A/G snv 0.12
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis 		0.810 1.000 2 2011 2015
dbSNP: rs10172410
rs10172410
ITGA4
1.000 0.040 2 181487841 intron variant T/C snv 0.45
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis 		0.700 1.000 1 2011 2011
dbSNP: rs1800802
rs1800802
MGP ; C12orf60
0.925 0.040 12 14885985 intron variant A/G snv 0.15
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis 		0.010 1.000 1 2011 2011
dbSNP: rs20417
rs20417
PTGS2 ; PACERR
0.576 0.600 1 186681189 non coding transcript exon variant C/G;T snv
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis 		0.010 1.000 1 2011 2011
dbSNP: rs2070739
rs2070739
COL2A1
1.000 0.040 12 47974193 missense variant C/T snv 0.16 1.0E-01
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis 		0.010 1.000 1 2011 2011
dbSNP: rs2276454
rs2276454
COL2A1 ; LOC105369752
0.925 0.040 12 47982508 synonymous variant G/A snv 0.39 0.38
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis 		0.010 < 0.001 1 2011 2011
dbSNP: rs28936368
rs28936368
COMP
0.882 0.080 19 18783129 missense variant G/A;T snv 8.6E-04
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis 		0.010 1.000 1 2011 2011
dbSNP: rs4730250
rs4730250
DUS4L
1.000 0.040 7 107567250 intron variant A/G snv 0.12
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis 		0.810 1.000 1 2011 2011
dbSNP: rs479632
rs479632
PITX1
1.000 0.040 5 135028828 missense variant C/G snv 0.29 0.24
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis 		0.010 < 0.001 1 2011 2011