Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
121 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.700 1.000 1 2016 2016
dbSNP: rs3735485
rs3735485
MYO1G
6 7 44969742 missense variant A/G snv 0.87 0.88 0.700 1.000 1 2016 2016
dbSNP: rs2034310
rs2034310
CD300LF ; RAB37
1 17 74695789 missense variant T/C snv 0.77 0.74 0.700 1.000 1 2016 2016
dbSNP: rs784498
rs784498
TTC21A ; MIR6822
1 3 39138608 synonymous variant T/A;C snv 0.75 0.700 1.000 1 2012 2012
dbSNP: rs3184504
rs3184504
ATXN2 ; SH2B3
92 0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67 0.700 1.000 1 2016 2016
dbSNP: rs1260326
rs1260326
GCKR
81 0.645 0.600 2 27508073 missense variant T/C;G snv 0.63; 4.0E-06 0.68 0.700 1.000 1 2016 2016
dbSNP: rs2270445
rs2270445
ARHGEF15
2 17 8316160 intron variant A/G snv 0.55 0.58 0.700 1.000 1 2012 2012
dbSNP: rs1065483
rs1065483
NUP88 ; RABEP1
1 17 5381475 synonymous variant G/A snv 0.53 0.51 0.700 1.000 1 2012 2012
dbSNP: rs2274517
rs2274517
PEX6
1 6 42964977 intron variant C/T snv 0.48 0.57 0.700 1.000 1 2012 2012
dbSNP: rs5498
rs5498
ICAM1 ; ICAM4
99 0.531 0.760 19 10285007 missense variant A/G snv 0.44 0.37 0.700 1.000 1 2016 2016
dbSNP: rs3818717
rs3818717
RAI1
2 17 17803791 synonymous variant T/C snv 0.42 0.42 0.700 1.000 1 2016 2016
dbSNP: rs392621
rs392621
TAMM41
1 3 11844891 splice region variant T/A;C snv 0.41 0.39 0.700 1.000 1 2012 2012
dbSNP: rs2302334
rs2302334
EIF2AK1 ; ANKRD61
1 7 6036192 missense variant A/T snv 0.39 0.36 0.700 1.000 1 2012 2012
dbSNP: rs2073748
rs2073748
ARVCF
1 22 19981448 missense variant G/A snv 0.38 0.36 0.700 1.000 1 2016 2016
dbSNP: rs10424282
rs10424282
VRK3
1 19 49989603 intron variant C/G;T snv 0.38 0.700 1.000 1 2012 2012
dbSNP: rs79478560
rs79478560
DNAH10
1 12 123914608 intron variant G/A snv 0.36 0.41 0.700 1.000 1 2016 2016
dbSNP: rs17762452
rs17762452
RAP1GAP2
1 17 2980294 missense variant C/A snv 0.34 0.27 0.700 1.000 1 2016 2016
dbSNP: rs2302234
rs2302234
PRKAR1A ; FAM20A
1 17 68542098 missense variant G/C;T snv 0.33 0.700 1.000 1 2012 2012
dbSNP: rs2305806
rs2305806
SH2D3A
2 1.000 0.120 19 6754996 synonymous variant T/C snv 0.30 0.35 0.700 1.000 1 2012 2012
dbSNP: rs35585
rs35585
DCTN5
1 16 23665790 3 prime UTR variant G/A;C snv 0.28; 9.8E-05 0.700 1.000 1 2012 2012
dbSNP: rs2229094
rs2229094
LTA ; LOC100287329
17 0.776 0.320 6 31572779 missense variant T/C snv 0.27 0.27 0.700 1.000 1 2016 2016
dbSNP: rs1880949
rs1880949
TAF6 ; CNPY4
1 7 100124643 intron variant G/A;T snv 4.0E-06; 0.26 0.24 0.700 1.000 1 2012 2012
dbSNP: rs17600797
rs17600797
YIPF7
1 4 44624789 splice region variant C/A;T snv 0.21; 1.6E-04 0.700 1.000 1 2012 2012
dbSNP: rs3748022
rs3748022
IKBKE ; C1orf147
1 1 206496132 missense variant C/T snv 0.20 0.17 0.700 1.000 1 2016 2016
dbSNP: rs7304326
rs7304326
C12orf45 ; ALDH1L2
1 12 105024516 intron variant G/A snv 0.18 0.22 0.700 1.000 1 2012 2012