Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs113488022
BRAF
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 490
rs2228570
VDR
0.521 0.760 12 47879112 start lost A/C;G;T snv 0.63 99
rs121913366
BRAF
0.763 0.400 7 140753345 missense variant A/C;T snv 12
rs993022333
KIT
0.851 0.080 4 54733173 missense variant A/C;T snv 5
rs1024708183
MAP2K7
0.925 0.040 19 7909761 missense variant A/G snv 4
rs397517132
EGFR
0.623 0.280 7 55191846 missense variant A/T snv 48
rs121913227
BRAF
0.653 0.320 7 140753336 missense variant AC/CT;TT mnv 31
rs121913368
BRAF
0.925 0.040 7 140753345 missense variant AG/GA mnv 2
rs745382803
MITF
1.000 0.040 3 69965076 missense variant C/A;G snv 4.0E-06; 4.0E-06 1
rs1544410
VDR
0.542 0.760 12 47846052 intron variant C/A;G;T snv 78
rs121913355
BRAF
0.641 0.520 7 140781602 missense variant C/A;G;T snv 4.0E-06 42
rs121913378
BRAF
0.776 0.280 7 140753337 missense variant C/A;G;T snv 11
rs374713701
TTN-AS1 ; TTN
1.000 0.040 2 178593660 missense variant C/A;T snv 4.0E-06; 8.1E-06 1
rs104894095
CDKN2A
0.827 0.120 9 21971200 missense variant C/G;T snv 9.0E-06 6
rs267605306
PKN1
1.000 0.040 19 14446504 missense variant C/G;T snv 1.6E-05 1
rs564777385
TTN
1.000 0.040 2 178800635 missense variant C/G;T snv 3.6E-05 1
rs750697353
RAF1
0.882 0.080 3 12608919 missense variant C/T snv 1.2E-05 2.8E-05 4
rs1204056923
TTN-AS1 ; TTN
1.000 0.040 2 178590160 missense variant C/T snv 1.4E-05 1
rs1277219458
PASK
1.000 0.040 2 241143002 missense variant C/T snv 1
rs1458591077
TTN ; TTN-AS1
1.000 0.040 2 178630352 missense variant C/T snv 1
rs1484691555
PAK5
1.000 0.040 20 9539512 missense variant C/T snv 4.0E-06 1
rs267599092
TTN-AS1 ; LOC101927055 ; TTN
1.000 0.040 2 178779043 missense variant C/T snv 1
rs267600891
RPS6KA2
1.000 0.040 6 166469882 missense variant C/T snv 1
rs267601046
LOC105375064 ; TTBK1
1.000 0.040 6 43283303 missense variant C/T snv 1
rs375422359
TTN ; TTN-AS1
1.000 0.040 2 178563634 missense variant C/T snv 2.4E-05 3.5E-05 1