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: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93
CUI: C0085655
Disease: Polymyositis
Polymyositis 		0.710 1.000 2 2008 2016
dbSNP: rs3094013
rs3094013
HCP5
1.000 0.080 6 31466589 non coding transcript exon variant G/A snv 7.6E-02
CUI: C0085655
Disease: Polymyositis
Polymyositis 		0.700 1.000 1 2016 2016
dbSNP: rs13277113
rs13277113
BLK
0.695 0.520 8 11491677 intron variant G/A snv 0.25
CUI: C0085655
Disease: Polymyositis
Polymyositis 		0.020 1.000 2 2014 2015
dbSNP: rs10069690
rs10069690
TERT
0.595 0.560 5 1279675 intron variant C/T snv 0.36
CUI: C0085655
Disease: Polymyositis
Polymyositis 		0.010 1.000 1 2015 2015
dbSNP: rs10758593
rs10758593
GLIS3
0.827 0.240 9 4292083 intron variant G/A snv 0.45
CUI: C0085655
Disease: Polymyositis
Polymyositis 		0.010 1.000 1 2017 2017
dbSNP: rs10814916
rs10814916
GLIS3
0.851 0.200 9 4293150 intron variant A/C snv 0.57
CUI: C0085655
Disease: Polymyositis
Polymyositis 		0.010 1.000 1 2017 2017
dbSNP: rs11171739
rs11171739
ERBB3
0.807 0.320 12 56076841 5 prime UTR variant C/T snv 0.49
CUI: C0085655
Disease: Polymyositis
Polymyositis 		0.010 1.000 1 2015 2015
dbSNP: rs17000730
rs17000730
TYK2
0.882 0.120 19 10380572 5 prime UTR variant T/C snv 5.0E-03
CUI: C0085655
Disease: Polymyositis
Polymyositis 		0.010 1.000 1 2017 2017
dbSNP: rs1990760
rs1990760
IFIH1
0.672 0.480 2 162267541 missense variant C/T snv 0.50 0.45
CUI: C0085655
Disease: Polymyositis
Polymyositis 		0.010 1.000 1 2010 2010
dbSNP: rs2230926
rs2230926
TNFAIP3
0.662 0.440 6 137874929 missense variant T/C;G snv 4.0E-06; 5.4E-02
CUI: C0085655
Disease: Polymyositis
Polymyositis 		0.010 1.000 1 2014 2014
dbSNP: rs2248932
rs2248932
BLK
0.882 0.160 8 11534141 intron variant A/G snv 0.60
CUI: C0085655
Disease: Polymyositis
Polymyositis 		0.010 1.000 1 2015 2015
dbSNP: rs2254546
rs2254546 		0.807 0.400 8 11486171 upstream gene variant A/G snv 0.83
CUI: C0085655
Disease: Polymyositis
Polymyositis 		0.010 1.000 1 2015 2015
dbSNP: rs2292239
rs2292239
ERBB3
0.742 0.480 12 56088396 intron variant T/G snv 0.65
CUI: C0085655
Disease: Polymyositis
Polymyositis 		0.010 1.000 1 2015 2015
dbSNP: rs2492358
rs2492358 		0.851 0.160 9 34737831 intron variant C/T snv 0.78
CUI: C0085655
Disease: Polymyositis
Polymyositis 		0.010 1.000 1 2015 2015
dbSNP: rs2736340
rs2736340 		0.683 0.480 8 11486464 upstream gene variant C/T snv 0.25
CUI: C0085655
Disease: Polymyositis
Polymyositis 		0.010 1.000 1 2015 2015
dbSNP: rs280501
rs280501
TYK2
0.882 0.120 19 10380646 upstream gene variant C/T snv 0.20
CUI: C0085655
Disease: Polymyositis
Polymyositis 		0.010 1.000 1 2017 2017
dbSNP: rs2853676
rs2853676
TERT
0.667 0.560 5 1288432 intron variant T/A;C snv
CUI: C0085655
Disease: Polymyositis
Polymyositis 		0.010 1.000 1 2015 2015
dbSNP: rs4728142
rs4728142 		0.732 0.320 7 128933913 upstream gene variant G/A snv 0.38
CUI: C0085655
Disease: Polymyositis
Polymyositis 		0.010 1.000 1 2014 2014
dbSNP: rs5029939
rs5029939
TNFAIP3
0.701 0.440 6 137874586 intron variant C/G snv 0.13
CUI: C0085655
Disease: Polymyositis
Polymyositis 		0.010 1.000 1 2014 2014
dbSNP: rs7020673
rs7020673
GLIS3
0.882 0.200 9 4291747 intron variant C/A;G snv
CUI: C0085655
Disease: Polymyositis
Polymyositis 		0.010 1.000 1 2017 2017
dbSNP: rs7812879
rs7812879 		0.807 0.320 8 11482672 upstream gene variant T/A;C snv
CUI: C0085655
Disease: Polymyositis
Polymyositis 		0.010 1.000 1 2015 2015
dbSNP: rs951005
rs951005 		0.807 0.200 9 34743684 intron variant G/A snv 0.78
CUI: C0085655
Disease: Polymyositis
Polymyositis 		0.010 1.000 1 2015 2015