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
rs121913377
BRAF
0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 480
rs397507444
MTHFR
0.405 0.880 1 11794407 missense variant T/G snv 306
rs1045642
ABCB1
0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 214
rs104893877
SNCA
0.614 0.360 4 89828149 missense variant C/T snv 59
rs121912438
SOD1
0.605 0.520 21 31667299 missense variant G/A;C;T snv 1.2E-05; 8.0E-06 58
rs1051266
SLC19A1
0.627 0.640 21 45537880 missense variant T/C;G snv 0.55; 4.4E-06 41
rs875989800
SMARCB1
0.732 0.480 22 23833670 inframe deletion AGA/- delins 33
rs1553920379
PPP3CA
0.776 0.160 4 101032294 frameshift variant -/AGTA delins 27
rs63750756
MAPT
0.716 0.200 17 46010324 missense variant T/G snv 2.6E-05 23
rs5742905
CBS
0.701 0.360 21 43063074 missense variant A/G snv 22
rs104893878
SNCA ; SNCA-AS1
0.732 0.160 4 89835580 missense variant C/G snv 21
rs555145190
NAGLU
0.732 0.360 17 42543921 stop gained G/A;C;T snv 4.2E-06 21
rs1566785444
IRF2BPL
0.827 0.200 14 77025671 frameshift variant C/- delins 20
rs4291
ACE
0.724 0.400 17 63476833 upstream gene variant T/A;C snv 20
rs387906846
ARID1A
0.807 0.280 1 26773716 stop gained C/G;T snv 19
rs5569
SLC6A2
0.742 0.280 16 55697923 synonymous variant G/A;C snv 0.31; 4.0E-06 19
rs63750215
PSEN2
0.701 0.240 1 226885603 missense variant A/T snv 19
rs80356537
ATP1A3
0.752 0.320 19 41970405 missense variant C/A;G;T snv 17
rs63751438
MAPT
0.776 0.120 17 46010388 missense variant C/T snv 16
rs74315431
VAPB
0.732 0.080 20 58418318 missense variant C/T snv 4.0E-06 15
rs61751362
MECP2
0.790 0.160 X 154030948 stop gained G/A;C snv 1.6E-05 14
rs121913470
ERBB2
0.776 0.200 17 39723967 missense variant T/C;G snv 13
rs1555582065
UBTF ; LOC101926967
0.827 0.160 17 44212851 missense variant C/T snv 13
rs771138120
CDKN2A
0.827 0.120 9 21971191 missense variant G/A;C;T snv 9.1E-06; 4.5E-06 13