Source: CURATED ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs770374710
MAGEL2
0.611 0.560 15 23645747 frameshift variant G/-;GG delins 87
rs3184504
SH2B3 ; ATXN2
0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67 73
rs752298579
TANGO2
0.701 0.480 22 20061538 missense variant G/A snv 1.4E-04 7.0E-06 48
rs866294686
TRIM8 ; LOC105378460
0.683 0.480 10 102657073 stop gained C/A;T snv 43
rs2476601
AP4B1-AS1 ; PTPN22
0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 39
rs653178
ATXN2
0.672 0.600 12 111569952 intron variant C/T snv 0.67 36
rs1800562
LOC108783645 ; HFE
0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 34
rs752746786
GNB1
0.742 0.560 1 1806503 missense variant A/C;G;T snv 4.0E-06 30
rs137854539
GNAS
0.716 0.520 20 58903703 missense variant C/T snv 27
rs6679677
PHTF1
0.653 0.320 1 113761186 upstream gene variant C/A snv 6.7E-02 26
rs387907141
ARID1B
0.752 0.360 6 157181137 stop gained C/T snv 24
rs113488022
BRAF
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 22
rs72653706
ABCC6
0.695 0.480 16 16163078 stop gained G/A snv 1.4E-03 1.2E-03 21
rs34536443
TYK2
0.667 0.400 19 10352442 missense variant G/C snv 2.7E-02 2.8E-02 20
rs794727931
ALG8
0.790 0.240 11 78112692 missense variant A/C snv 19
rs597808
ATXN2
0.742 0.200 12 111535554 intron variant A/G snv 0.67 19
rs17696736
NAA25
0.827 0.240 12 112049014 intron variant A/G snv 0.30 18
rs397507531
PTPN11
0.752 0.320 12 112473040 missense variant T/C;G snv 18
rs74799832
RET
0.662 0.280 10 43121968 missense variant T/C snv 4.0E-06 18
rs11065987 0.807 0.280 12 111634620 intergenic variant A/G snv 0.29 17
rs587777630
STAT1
0.716 0.440 2 190986921 missense variant G/A snv 15
rs7705526
TERT
0.776 0.240 5 1285859 intron variant C/A;T snv 15
rs1057523354
COL4A1
0.763 0.480 13 110179387 missense variant C/A snv 13
rs2111485 0.724 0.280 2 162254026 regulatory region variant A/G snv 0.46 12
rs4409785 0.752 0.240 11 95578258 intron variant T/C snv 0.13 12