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: rs11549465
rs11549465
HIF1A ; HIF1A-AS3
0.597 0.680 14 61740839 missense variant C/T snv 8.8E-02 7.7E-02
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis 		0.010 1.000 1 2015 2015
dbSNP: rs1800797
rs1800797
IL6 ; STEAP1B ; IL6-AS1
0.605 0.800 7 22726602 non coding transcript exon variant A/G snv 0.72
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis 		0.020 1.000 2 2008 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: rs1416580204
rs1416580204
MOK
0.608 0.720 14 102250837 missense variant C/T snv 4.0E-06 7.0E-06
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis 		0.010 1.000 1 2012 2012
dbSNP: rs3743930
rs3743930
MEFV
0.611 0.720 16 3254626 missense variant C/G;T snv 7.1E-02
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis 		0.010 1.000 1 2013 2013
dbSNP: rs1800587
rs1800587
IL1A
0.620 0.720 2 112785383 upstream gene variant G/A;C snv 0.32
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis 		0.010 1.000 1 2013 2013
dbSNP: rs3761548
rs3761548
FOXP3
0.620 0.680 X 49261784 intron variant G/A;T snv
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis 		0.010 1.000 1 2018 2018
dbSNP: rs352140
rs352140
TLR9
0.630 0.680 3 52222681 synonymous variant C/A;G;T snv 2.0E-05; 0.49
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis 		0.010 1.000 1 2012 2012
dbSNP: rs1061622
rs1061622
TNFRSF1B
0.633 0.760 1 12192898 missense variant T/G snv 0.22 0.22
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis 		0.010 1.000 1 2006 2006
dbSNP: rs1232898090
rs1232898090
PPARA
0.637 0.600 22 46198429 missense variant G/C;T snv 4.0E-06; 4.0E-06
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis 		0.010 1.000 1 2009 2009
dbSNP: rs1800682
rs1800682
ACTA2 ; FAS
0.637 0.440 10 88990206 non coding transcript exon variant A/G snv 0.54
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis 		0.010 1.000 1 2018 2018
dbSNP: rs1801278
rs1801278
IRS1
0.637 0.560 2 226795828 missense variant C/G;T snv 4.0E-06; 5.2E-02
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis 		0.010 1.000 1 2019 2019
dbSNP: rs1256049
rs1256049
ESR2
0.645 0.560 14 64257333 synonymous variant C/T snv 6.7E-02 6.3E-02
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis 		0.020 1.000 2 2012 2014
dbSNP: rs1982073
rs1982073
TGFB1
0.649 0.640 19 41353016 missense variant G/A;C snv
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis 		0.010 1.000 1 2016 2016
dbSNP: rs2234767
rs2234767
ACTA2 ; FAS
0.649 0.280 10 88989499 intron variant G/A;T snv 0.15
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis 		0.010 1.000 1 2018 2018
dbSNP: rs763110
rs763110
FASLG
0.653 0.560 1 172658358 upstream gene variant C/T snv 0.49
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis 		0.010 1.000 1 2018 2018
dbSNP: rs3783553
rs3783553
IL1A
0.667 0.480 2 112774138 3 prime UTR variant -/TGAA delins
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis 		0.010 1.000 1 2015 2015
dbSNP: rs2227306
rs2227306
CXCL8
0.677 0.680 4 73741338 intron variant C/T snv 0.31
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis 		0.010 1.000 1 2014 2014
dbSNP: rs1805015
rs1805015
IL4R
0.683 0.520 16 27362859 missense variant T/C snv 0.16 0.22
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis 		0.010 1.000 1 2014 2014
dbSNP: rs225014
rs225014
DIO2
0.695 0.400 14 80203237 missense variant T/C snv 0.41 0.39
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis 		0.010 1.000 1 2012 2012
dbSNP: rs182052
rs182052
ADIPOQ
0.701 0.440 3 186842993 intron variant G/A snv 0.38
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis 		0.010 1.000 1 2018 2018
dbSNP: rs2232365
rs2232365
FOXP3
0.716 0.480 X 49259429 intron variant T/C snv
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis 		0.010 1.000 1 2018 2018
dbSNP: rs3117582
rs3117582
BAG6 ; APOM
0.716 0.440 6 31652743 intron variant T/G snv 7.1E-02
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis 		0.010 1.000 1 2015 2015
dbSNP: rs679620
rs679620
MMP3
0.716 0.360 11 102842889 missense variant T/C snv 0.58 0.57
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis 		0.010 1.000 1 2017 2017
dbSNP: rs143383
rs143383
GDF5
0.724 0.320 20 35438203 5 prime UTR variant G/A snv 0.47
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis 		0.100 0.880 25 2007 2019