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: rs3184504
rs3184504
ATXN2 ; SH2B3
0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67
CUI: C1272321
Disease: Autoantibody measurement
Autoantibody measurement 		0.800 1.000 2 2011 2018
dbSNP: rs7528684
rs7528684
FCRL3
0.752 0.560 1 157701026 upstream gene variant A/G snv 0.57
CUI: C1272321
Disease: Autoantibody measurement
Autoantibody measurement 		0.800 1.000 1 2011 2011
dbSNP: rs1004446
rs1004446
IGF2 ; IGF2-AS ; INS-IGF2
0.827 0.240 11 2148913 intron variant G/A snv 0.37
CUI: C1272321
Disease: Autoantibody measurement
Autoantibody measurement 		0.700 1.000 1 2011 2011
dbSNP: rs10402271
rs10402271 		1.000 0.080 19 44825957 downstream gene variant T/G snv 0.28
CUI: C1272321
Disease: Autoantibody measurement
Autoantibody measurement 		0.700 1.000 1 2009 2009
dbSNP: rs1048699
rs1048699
MARK4 ; PPP1R37
1.000 0.080 19 45147128 3 prime UTR variant C/T snv 9.0E-02
CUI: C1272321
Disease: Autoantibody measurement
Autoantibody measurement 		0.700 1.000 1 2009 2009
dbSNP: rs11136000
rs11136000
CLU
0.752 0.160 8 27607002 intron variant T/C snv 0.56
CUI: C1272321
Disease: Autoantibody measurement
Autoantibody measurement 		0.700 1.000 1 2009 2009
dbSNP: rs1114832
rs1114832
MARK4 ; PPP1R37
1.000 0.080 19 45132943 intron variant C/T snv 9.2E-02
CUI: C1272321
Disease: Autoantibody measurement
Autoantibody measurement 		0.700 1.000 1 2009 2009
dbSNP: rs11755527
rs11755527
BACH2
0.851 0.360 6 90248512 intron variant C/G snv 0.36
CUI: C1272321
Disease: Autoantibody measurement
Autoantibody measurement 		0.700 1.000 1 2011 2011
dbSNP: rs11894266
rs11894266 		1.000 0.080 2 169780132 downstream gene variant C/T snv 0.45
CUI: C1272321
Disease: Autoantibody measurement
Autoantibody measurement 		0.700 1.000 1 2009 2009
dbSNP: rs12518099
rs12518099
LINC01339
0.925 0.120 5 90250292 intron variant A/G;T snv
CUI: C1272321
Disease: Autoantibody measurement
Autoantibody measurement 		0.700 1.000 1 2009 2009
dbSNP: rs12610605
rs12610605
NECTIN2
1.000 0.080 19 44867581 intron variant G/A snv 0.15
CUI: C1272321
Disease: Autoantibody measurement
Autoantibody measurement 		0.700 1.000 1 2009 2009
dbSNP: rs12708716
rs12708716
CLEC16A
0.807 0.320 16 11086016 intron variant A/G snv 0.37
CUI: C1272321
Disease: Autoantibody measurement
Autoantibody measurement 		0.700 1.000 1 2011 2011
dbSNP: rs12722495
rs12722495
IL2RA
0.851 0.200 10 6055320 intron variant T/C snv 7.0E-02
CUI: C1272321
Disease: Autoantibody measurement
Autoantibody measurement 		0.700 1.000 1 2011 2011
dbSNP: rs13266634
rs13266634
SLC30A8 ; LOC105375716
0.724 0.480 8 117172544 missense variant C/A;T snv 0.29
CUI: C1272321
Disease: Autoantibody measurement
Autoantibody measurement 		0.700 1.000 1 2009 2009
dbSNP: rs157580
rs157580
TOMM40
0.882 0.160 19 44892009 intron variant G/A snv 0.69
CUI: C1272321
Disease: Autoantibody measurement
Autoantibody measurement 		0.700 1.000 1 2009 2009
dbSNP: rs1701704
rs1701704
IKZF4 ; LOC105369781
0.851 0.200 12 56018703 intron variant T/G snv 0.25
CUI: C1272321
Disease: Autoantibody measurement
Autoantibody measurement 		0.700 1.000 1 2011 2011
dbSNP: rs1871047
rs1871047
NECTIN2
1.000 0.080 19 44848489 intron variant A/G snv 0.31
CUI: C1272321
Disease: Autoantibody measurement
Autoantibody measurement 		0.700 1.000 1 2009 2009
dbSNP: rs1990760
rs1990760
IFIH1
0.672 0.480 2 162267541 missense variant C/T snv 0.50 0.45
CUI: C1272321
Disease: Autoantibody measurement
Autoantibody measurement 		0.700 1.000 1 2011 2011
dbSNP: rs2069762
rs2069762
IL2
0.672 0.560 4 122456825 upstream gene variant A/C snv 0.24
CUI: C1272321
Disease: Autoantibody measurement
Autoantibody measurement 		0.700 1.000 1 2011 2011
dbSNP: rs2075650
rs2075650
TOMM40
0.662 0.360 19 44892362 intron variant A/G snv 0.13 0.13
CUI: C1272321
Disease: Autoantibody measurement
Autoantibody measurement 		0.700 1.000 1 2009 2009
dbSNP: rs2292239
rs2292239
ERBB3
0.742 0.480 12 56088396 intron variant T/G snv 0.65
CUI: C1272321
Disease: Autoantibody measurement
Autoantibody measurement 		0.700 1.000 1 2011 2011
dbSNP: rs2304256
rs2304256
TYK2
0.732 0.360 19 10364976 missense variant C/A snv 0.27 0.23
CUI: C1272321
Disease: Autoantibody measurement
Autoantibody measurement 		0.700 1.000 1 2011 2011
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93
CUI: C1272321
Disease: Autoantibody measurement
Autoantibody measurement 		0.700 1.000 1 2011 2011
dbSNP: rs2542151
rs2542151 		0.763 0.480 18 12779948 upstream gene variant G/T snv 0.83
CUI: C1272321
Disease: Autoantibody measurement
Autoantibody measurement 		0.700 1.000 1 2011 2011
dbSNP: rs2582367
rs2582367 		1.000 0.080 8 27622508 regulatory region variant C/T snv 0.64
CUI: C1272321
Disease: Autoantibody measurement
Autoantibody measurement 		0.700 1.000 1 2009 2009