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: rs1990760
rs1990760
IFIH1
0.672 0.480 2 162267541 missense variant C/T snv 0.50 0.45
CUI: C0221056
Disease: Adult type dermatomyositis
Adult type dermatomyositis 		0.010 1.000 1 2010 2010
dbSNP: rs1800450
rs1800450
MBL2
0.662 0.640 10 52771475 missense variant C/T snv 0.14 0.11
CUI: C0221056
Disease: Adult type dermatomyositis
Adult type 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: C0221056
Disease: Adult type dermatomyositis
Adult type dermatomyositis 		0.010 1.000 1 2014 2014
dbSNP: rs2230926
rs2230926
TNFAIP3
0.662 0.440 6 137874929 missense variant T/C;G snv 4.0E-06; 5.4E-02
CUI: C0221056
Disease: Adult type dermatomyositis
Adult type dermatomyositis 		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: C0221056
Disease: Adult type dermatomyositis
Adult type dermatomyositis 		0.010 1.000 1 2014 2014
dbSNP: rs5030737
rs5030737
MBL2
0.752 0.360 10 52771482 missense variant G/A snv 5.6E-02 5.0E-02
CUI: C0221056
Disease: Adult type dermatomyositis
Adult type dermatomyositis 		0.010 1.000 1 2014 2014
dbSNP: rs7574865
rs7574865
STAT4
0.574 0.720 2 191099907 intron variant T/G snv 0.79
CUI: C0221056
Disease: Adult type dermatomyositis
Adult type dermatomyositis 		0.010 1.000 1 2014 2014
dbSNP: rs10069690
rs10069690
TERT
0.595 0.560 5 1279675 intron variant C/T snv 0.36
CUI: C0221056
Disease: Adult type dermatomyositis
Adult type dermatomyositis 		0.010 1.000 1 2015 2015
dbSNP: rs11171739
rs11171739
ERBB3
0.807 0.320 12 56076841 5 prime UTR variant C/T snv 0.49
CUI: C0221056
Disease: Adult type dermatomyositis
Adult type dermatomyositis 		0.010 1.000 1 2015 2015
dbSNP: rs13277113
rs13277113
BLK
0.695 0.520 8 11491677 intron variant G/A snv 0.25
CUI: C0221056
Disease: Adult type dermatomyositis
Adult type dermatomyositis 		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: C0221056
Disease: Adult type dermatomyositis
Adult type dermatomyositis 		0.010 1.000 1 2015 2015
dbSNP: rs2492358
rs2492358 		0.851 0.160 9 34737831 intron variant C/T snv 0.78
CUI: C0221056
Disease: Adult type dermatomyositis
Adult type 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: C0221056
Disease: Adult type dermatomyositis
Adult type dermatomyositis 		0.010 1.000 1 2015 2015
dbSNP: rs2853676
rs2853676
TERT
0.667 0.560 5 1288432 intron variant T/A;C snv
CUI: C0221056
Disease: Adult type dermatomyositis
Adult type dermatomyositis 		0.010 1.000 1 2015 2015
dbSNP: rs7812879
rs7812879 		0.807 0.320 8 11482672 upstream gene variant T/A;C snv
CUI: C0221056
Disease: Adult type dermatomyositis
Adult type dermatomyositis 		0.010 1.000 1 2015 2015
dbSNP: rs951005
rs951005 		0.807 0.200 9 34743684 intron variant G/A snv 0.78
CUI: C0221056
Disease: Adult type dermatomyositis
Adult type 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: C0221056
Disease: Adult type dermatomyositis
Adult type dermatomyositis 		0.010 1.000 1 2016 2016
dbSNP: rs3750716
rs3750716
CPN1
0.925 0.120 10 100057106 synonymous variant C/G;T snv 6.6E-03
CUI: C0221056
Disease: Adult type dermatomyositis
Adult type dermatomyositis 		0.010 1.000 1 2016 2016
dbSNP: rs6738825
rs6738825
PLCL1
0.851 0.200 2 198032171 intron variant A/G snv 0.49
CUI: C0221056
Disease: Adult type dermatomyositis
Adult type dermatomyositis 		0.010 1.000 1 2016 2016
dbSNP: rs7572733
rs7572733
PLCL1
0.925 0.120 2 198065082 intron variant C/T snv 0.43
CUI: C0221056
Disease: Adult type dermatomyositis
Adult type dermatomyositis 		0.010 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: C0221056
Disease: Adult type dermatomyositis
Adult type dermatomyositis 		0.010 1.000 1 2016 2016
dbSNP: rs938929
rs938929
PLCL1
0.925 0.120 2 197916136 intron variant A/G snv 0.50
CUI: C0221056
Disease: Adult type dermatomyositis
Adult type dermatomyositis 		0.010 1.000 1 2016 2016
dbSNP: rs9500928
rs9500928
HLA-DPA1 ; HLA-DPB1
0.925 0.120 6 33081917 intron variant C/T snv 4.0E-02
CUI: C0221056
Disease: Adult type dermatomyositis
Adult type dermatomyositis 		0.010 1.000 1 2016 2016
dbSNP: rs9501251
rs9501251
HLA-DPA1 ; HLA-DPB1
0.882 0.200 6 33081886 intron variant A/G snv 4.0E-02
CUI: C0221056
Disease: Adult type dermatomyositis
Adult type dermatomyositis 		0.010 1.000 1 2016 2016
dbSNP: rs9986765
rs9986765
PIP
0.925 0.120 7 143138146 intron variant A/G snv 0.12
CUI: C0221056
Disease: Adult type dermatomyositis
Adult type dermatomyositis 		0.010 1.000 1 2016 2016