Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs121909231
PTEN
0.667 0.600 10 87961095 stop gained C/A;T snv 29
rs142441643
SDHA
0.732 0.320 5 223509 stop gained C/T snv 2.0E-04 2.4E-04 12
rs767350733
ALS2
0.882 0.120 2 201724392 stop gained G/A snv 2.0E-05 7
rs786204849
FIBP
0.882 0.200 11 65885181 stop gained G/A snv 7
rs113001196
FBN1
0.882 0.160 15 48432947 stop gained G/A snv 5
rs567573386
BBS2
0.882 0.120 16 56484820 stop gained G/A snv 3.2E-05 1.4E-05 5
rs1247427997
TMCO1
1.000 1 165743244 stop gained G/A;T snv 4.0E-06; 4.0E-06 4
rs1314314373
BCL11B
1.000 14 99176115 stop gained G/A;C snv 4.1E-06 4
rs1553249737
TMCO1
1.000 1 165743263 stop gained G/T snv 4
rs786205208
NEXMIF
0.925 X 74742675 stop gained G/A snv 4
rs1553156053
SLC2A1
1.000 1 42929652 stop gained G/A snv 3
rs1554062562
TRIO
1.000 5 14359442 stop gained C/T snv 3
rs1554708787
PTCH1
1.000 9 95506567 stop gained C/T snv 3
rs1554944527
DEAF1
1.000 11 687999 stop gained G/T snv 3
rs761532715
PKDCC
1.000 2 42053250 stop gained C/A snv 3
rs781768965
PTCH1
1.000 9 95508175 stop gained C/A;G snv 4.0E-06 3
rs781978013
KMT2A
1.000 11 118472681 stop gained G/A;T snv 4.0E-06 3
rs886041382
WDR45
0.925 0.080 X 49078077 stop gained G/A snv 3
rs1554931219
BDNF ; BDNF-AS
11 27658063 stop gained C/A snv 2
rs1555100954
SHANK2
1.000 11 71118963 stop gained G/A snv 2
rs1556220623
CUL4B
1.000 X 120547191 stop gained G/A snv 2
rs1556836399
MIR6895 ; KDM5C
1.000 X 53195978 stop gained G/A snv 2
rs773724817
KCNH2
0.925 0.160 7 150948861 stop gained G/A snv 4.0E-06 2
rs781469274
DNAH5
5 13792128 stop gained G/A snv 3.2E-05 7.0E-06 2
rs946006593
GATAD2B
1 153812108 stop gained G/A;C snv 2