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: rs12047961
rs12047961
LOC105371497
1.000 0.080 1 162479619 intergenic variant G/A snv 1.3E-02
CUI: C0039263
Disease: Takayasu Arteritis
Takayasu Arteritis 		0.700 1.000 1 2015 2015
dbSNP: rs2836878
rs2836878 		0.851 0.200 21 39093608 intergenic variant G/A snv 0.23
CUI: C0039263
Disease: Takayasu Arteritis
Takayasu Arteritis 		0.010 1.000 1 2015 2015
dbSNP: rs3869115
rs3869115 		1.000 0.080 6 31236917 intergenic variant C/G snv 9.5E-02
CUI: C0039263
Disease: Takayasu Arteritis
Takayasu Arteritis 		0.700 1.000 1 2015 2015
dbSNP: rs4817984
rs4817984 		1.000 0.080 21 39093140 intergenic variant C/A;G snv
CUI: C0039263
Disease: Takayasu Arteritis
Takayasu Arteritis 		0.700 1.000 1 2015 2015
dbSNP: rs7603494
rs7603494 		1.000 0.080 2 47676957 intergenic variant C/T snv 0.57
CUI: C0039263
Disease: Takayasu Arteritis
Takayasu Arteritis 		0.700 1.000 1 2015 2015
dbSNP: rs17133698
rs17133698 		1.000 0.080 6 255562 regulatory region variant C/T snv 6.5E-02
CUI: C0039263
Disease: Takayasu Arteritis
Takayasu Arteritis 		0.700 1.000 1 2018 2018
dbSNP: rs4817988
rs4817988 		1.000 0.080 21 39096912 regulatory region variant G/A snv 0.26
CUI: C0039263
Disease: Takayasu Arteritis
Takayasu Arteritis 		0.700 1.000 1 2018 2018
dbSNP: rs9271539
rs9271539 		1.000 0.080 6 32622251 regulatory region variant G/A snv 0.36
CUI: C0039263
Disease: Takayasu Arteritis
Takayasu Arteritis 		0.700 1.000 1 2015 2015
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93
CUI: C0039263
Disease: Takayasu Arteritis
Takayasu Arteritis 		0.020 1.000 2 2008 2019
dbSNP: rs665268
rs665268
MLX
0.882 0.160 17 42570011 missense variant A/G snv 0.28 0.25
CUI: C0039263
Disease: Takayasu Arteritis
Takayasu Arteritis 		0.020 1.000 2 2016 2018
dbSNP: rs104895476
rs104895476
NOD2
0.925 0.160 16 50711057 missense variant C/G;T snv 4.8E-05
CUI: C0039263
Disease: Takayasu Arteritis
Takayasu Arteritis 		0.010 1.000 1 2013 2013
dbSNP: rs1264457
rs1264457
HLA-E
0.851 0.160 6 30490287 missense variant G/A;T snv 0.54
CUI: C0039263
Disease: Takayasu Arteritis
Takayasu Arteritis 		0.010 1.000 1 2018 2018
dbSNP: rs33996649
rs33996649
PTPN22 ; AP4B1-AS1
0.732 0.400 1 113852067 missense variant C/T snv 1.7E-02 1.6E-02
CUI: C0039263
Disease: Takayasu Arteritis
Takayasu Arteritis 		0.010 < 0.001 1 2019 2019
dbSNP: rs763780
rs763780
IL17F
0.531 0.720 6 52236941 missense variant T/C snv 6.7E-02 6.6E-02
CUI: C0039263
Disease: Takayasu Arteritis
Takayasu Arteritis 		0.010 1.000 1 2018 2018
dbSNP: rs12321966
rs12321966 		1.000 0.080 12 8548569 non coding transcript exon variant G/T snv 9.4E-02
CUI: C0039263
Disease: Takayasu Arteritis
Takayasu Arteritis 		0.700 1.000 1 2015 2015
dbSNP: rs3763288
rs3763288
MICA
0.925 0.160 6 31402590 non coding transcript exon variant G/A snv 5.3E-02
CUI: C0039263
Disease: Takayasu Arteritis
Takayasu Arteritis 		0.010 1.000 1 2018 2018
dbSNP: rs41267090
rs41267090
CYP21A2 ; EHMT2 ; SLC44A4 ; EHMT2-AS1 ; LOC107986588
1.000 0.080 6 31880663 non coding transcript exon variant A/G;T snv 8.0E-06; 4.5E-02
CUI: C0039263
Disease: Takayasu Arteritis
Takayasu Arteritis 		0.700 1.000 1 2015 2015
dbSNP: rs7743661
rs7743661
DDR1 ; MIR4640
1.000 0.080 6 30890477 non coding transcript exon variant T/C snv 0.25
CUI: C0039263
Disease: Takayasu Arteritis
Takayasu Arteritis 		0.700 1.000 1 2015 2015
dbSNP: rs1205
rs1205
CRP
0.602 0.680 1 159712443 3 prime UTR variant C/T snv 0.30
CUI: C0039263
Disease: Takayasu Arteritis
Takayasu Arteritis 		0.010 1.000 1 2018 2018
dbSNP: rs1713450
rs1713450
KLHL33
1.000 0.080 14 20428086 3 prime UTR variant T/C snv 0.44
CUI: C0039263
Disease: Takayasu Arteritis
Takayasu Arteritis 		0.700 1.000 1 2018 2018
dbSNP: rs28399987
rs28399987
MSH5 ; SAPCD1 ; MSH5-SAPCD1
1.000 0.080 6 31762974 3 prime UTR variant G/A snv 6.5E-03
CUI: C0039263
Disease: Takayasu Arteritis
Takayasu Arteritis 		0.700 1.000 1 2015 2015
dbSNP: rs8111
rs8111
ATF6B ; TNXB
0.925 0.160 6 32115398 3 prime UTR variant C/T snv 0.26
CUI: C0039263
Disease: Takayasu Arteritis
Takayasu Arteritis 		0.700 1.000 1 2015 2015
dbSNP: rs12524487
rs12524487 		0.925 0.160 6 31386461 upstream gene variant C/T snv 5.9E-02
CUI: C0039263
Disease: Takayasu Arteritis
Takayasu Arteritis 		0.720 1.000 4 2013 2018
dbSNP: rs113452171
rs113452171
HLA-DQB1-AS1
1.000 0.080 6 32658490 upstream gene variant G/T snv
CUI: C0039263
Disease: Takayasu Arteritis
Takayasu Arteritis 		0.700 1.000 1 2013 2013
dbSNP: rs4463283
rs4463283 		1.000 0.080 6 29097215 upstream gene variant C/A;T snv 8.1E-02
CUI: C0039263
Disease: Takayasu Arteritis
Takayasu Arteritis 		0.700 1.000 1 2015 2015