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: rs3750716
rs3750716
CPN1
0.925 0.120 10 100057106 synonymous variant C/G;T snv 6.6E-03
CUI: C0011633
Disease: Dermatomyositis
Dermatomyositis 		0.710 1.000 1 2016 2016
dbSNP: rs7750458
rs7750458
HLA-DPA1 ; HLA-DPB1
0.925 0.120 6 33077921 intron variant G/A snv 9.5E-02
CUI: C0011633
Disease: Dermatomyositis
Dermatomyositis 		0.710 1.000 1 2016 2016
dbSNP: rs9986765
rs9986765
PIP
0.925 0.120 7 143138146 intron variant A/G snv 0.12
CUI: C0011633
Disease: Dermatomyositis
Dermatomyositis 		0.710 1.000 1 2016 2016
dbSNP: rs3129843
rs3129843 		0.827 0.160 6 32427949 intergenic variant A/G snv 6.3E-02
CUI: C0011633
Disease: Dermatomyositis
Dermatomyositis 		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: C0011633
Disease: Dermatomyositis
Dermatomyositis 		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: C0011633
Disease: Dermatomyositis
Dermatomyositis 		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: C0011633
Disease: Dermatomyositis
Dermatomyositis 		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: C0011633
Disease: Dermatomyositis
Dermatomyositis 		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: C0011633
Disease: Dermatomyositis
Dermatomyositis 		0.010 1.000 1 2015 2015
dbSNP: rs1518364
rs1518364
PLCL1
0.925 0.120 2 197945251 intron variant G/A snv 0.49
CUI: C0011633
Disease: Dermatomyositis
Dermatomyositis 		0.010 1.000 1 2016 2016
dbSNP: rs17000730
rs17000730
TYK2
0.882 0.120 19 10380572 5 prime UTR variant T/C snv 5.0E-03
CUI: C0011633
Disease: Dermatomyositis
Dermatomyositis 		0.010 1.000 1 2017 2017
dbSNP: rs1800450
rs1800450
MBL2
0.662 0.640 10 52771475 missense variant C/T snv 0.14 0.11
CUI: C0011633
Disease: Dermatomyositis
Dermatomyositis 		0.010 1.000 1 2014 2014
dbSNP: rs1800451
rs1800451
MBL2
0.776 0.240 10 52771466 missense variant C/T snv 3.2E-02 7.9E-02
CUI: C0011633
Disease: Dermatomyositis
Dermatomyositis 		0.010 1.000 1 2014 2014
dbSNP: rs1990760
rs1990760
IFIH1
0.672 0.480 2 162267541 missense variant C/T snv 0.50 0.45
CUI: C0011633
Disease: Dermatomyositis
Dermatomyositis 		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: C0011633
Disease: Dermatomyositis
Dermatomyositis 		0.010 1.000 1 2014 2014
dbSNP: rs2292239
rs2292239
ERBB3
0.742 0.480 12 56088396 intron variant T/G snv 0.65
CUI: C0011633
Disease: Dermatomyositis
Dermatomyositis 		0.010 1.000 1 2015 2015
dbSNP: rs2304256
rs2304256
TYK2
0.732 0.360 19 10364976 missense variant C/A snv 0.27 0.23
CUI: C0011633
Disease: Dermatomyositis
Dermatomyositis 		0.010 1.000 1 2017 2017
dbSNP: rs2492358
rs2492358 		0.851 0.160 9 34737831 intron variant C/T snv 0.78
CUI: C0011633
Disease: Dermatomyositis
Dermatomyositis 		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: C0011633
Disease: Dermatomyositis
Dermatomyositis 		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: C0011633
Disease: Dermatomyositis
Dermatomyositis 		0.010 1.000 1 2017 2017
dbSNP: rs280519
rs280519
TYK2
0.752 0.320 19 10362257 splice region variant A/C;G snv 0.50
CUI: C0011633
Disease: Dermatomyositis
Dermatomyositis 		0.010 1.000 1 2017 2017
dbSNP: rs2853676
rs2853676
TERT
0.667 0.560 5 1288432 intron variant T/A;C snv
CUI: C0011633
Disease: Dermatomyositis
Dermatomyositis 		0.010 1.000 1 2015 2015
dbSNP: rs2910164
rs2910164
MIR146A ; MIR3142HG
0.447 0.880 5 160485411 mature miRNA variant C/G snv 0.71; 4.1E-06 0.70
CUI: C0011633
Disease: Dermatomyositis
Dermatomyositis 		0.010 1.000 1 2014 2014
dbSNP: rs3733197
rs3733197
BANK1
0.742 0.320 4 101918130 missense variant G/A snv 0.31 0.30
CUI: C0011633
Disease: Dermatomyositis
Dermatomyositis 		0.010 1.000 1 2019 2019
dbSNP: rs5029939
rs5029939
TNFAIP3
0.701 0.440 6 137874586 intron variant C/G snv 0.13
CUI: C0011633
Disease: Dermatomyositis
Dermatomyositis 		0.010 1.000 1 2014 2014