Source: CURATED ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs863225082
PPP2R5D ; MEA1
0.827 0.160 6 43007265 missense variant G/A snv 7
rs2388334 0.882 0.040 6 98143746 intron variant A/G snv 0.39 5
rs2230365
NFKBIL1
0.925 0.160 6 31557671 synonymous variant C/T snv 0.16 0.13 2
rs10498676
ELOVL2
0.925 0.040 6 11026766 intron variant G/A snv 0.18 1
rs17606561
ELOVL2
1.000 0.040 6 10982126 3 prime UTR variant G/A snv 0.17 1
rs3756963
ELOVL2
0.882 0.200 6 11021921 intron variant T/C snv 0.24 1
rs9468304
ELOVL2-AS1 ; ELOVL2
1.000 0.040 6 11041932 intron variant G/A snv 0.19 1
rs4307059 0.882 0.080 5 25967594 intron variant T/A;C snv 2
rs1561824498
MEF2C
1.000 0.040 5 88752044 splice acceptor variant C/A snv 1
rs796052733
MEF2C
1.000 0.040 5 88731773 stop gained G/A snv 1
rs121912562
NR3C2
0.925 0.160 4 148435252 stop gained G/A;C snv 4.0E-06 2
rs4588
GC
0.597 0.720 4 71752606 missense variant G/A;T snv 1.6E-05; 0.25 2
rs870142
STX18-AS1
0.851 0.120 4 4646320 intron variant C/G;T snv 2
rs16835979
STX18-AS1
0.851 0.120 4 4633549 intron variant C/A snv 0.20 1
rs6824295
STX18-AS1
0.851 0.120 4 4612553 intron variant C/T snv 0.20 1
rs112795301
FOXP1
0.776 0.160 3 70972634 stop gained G/A snv 11
rs1452075
CADPS
1.000 0.040 3 62495388 intron variant C/T snv 0.73 4
rs886039770
TOP2B
1.000 0.040 3 25645353 missense variant G/A snv 1
rs797045050
KIF1A
0.807 0.120 2 240797715 missense variant C/T snv 4
rs121918799
SCN1A-AS1 ; SCN1A ; LOC102724058
0.752 0.120 2 166015636 missense variant G/C snv 1.7E-03 1.6E-03 2
rs1553518509
MBD5
1.000 0.040 2 148468916 stop gained C/T snv 2
rs10497655
LOC105373780 ; ZNF804A
1.000 0.040 2 184597314 intron variant T/C;G snv 1
rs2289195
DNMT3A
1.000 0.040 2 25240614 intron variant G/A snv 0.41 0.41 1
rs878853161
SLC2A1
0.851 0.240 1 42929977 frameshift variant AT/- del 7
rs1801133
MTHFR
0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 6