Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1569513017
ATRX
1.000 X 77508625 frameshift variant A/- del 1
rs121434618
BCOR
0.827 0.200 X 40075092 missense variant G/A;C snv 5.6E-06 1
rs1325951163
BRAF
1.000 7 140801517 missense variant C/G;T snv 4.0E-06 1
rs193929337
KCNJ11
0.827 0.160 11 17387937 missense variant T/C snv 1
rs193929353
KCNJ11
0.882 0.120 11 17387206 missense variant T/C;G snv 1
rs193929358
KCNJ11
0.851 0.240 11 17387091 missense variant C/T snv 1
rs121908332
KCNK9
0.882 0.240 8 139618677 missense variant C/G;T snv 1
rs1057518699
LAS1L
0.925 0.200 X 65524113 missense variant G/A snv 1
rs104894421
LIG4
0.882 0.200 13 108210436 missense variant C/A;T snv 1.2E-05 1
rs179363901
MECP2
0.882 0.120 X 154097661 missense variant G/A snv 1
rs786203986
NALCN
0.925 13 101176371 missense variant G/A;C snv 4.3E-06 1
rs34767364
NBN
0.701 0.280 8 89971232 missense variant G/A;C snv 2.5E-03 1
rs104894884
NDUFA1 ; RNF113A
0.882 0.040 X 119871933 missense variant G/C snv 1
rs104894885
NDUFA1 ; RNF113A
0.851 0.120 X 119873312 missense variant G/A;C snv 1
rs879255597
NEDD4L
0.882 0.080 18 58390667 missense variant G/A snv 1
rs1135402725
PDHX
0.851 0.120 11 34995002 stop gained C/T snv 1.2E-05 1
rs398122855
PRPS1
0.882 0.240 X 107642384 missense variant G/C snv 1
rs398123001
PUF60
0.925 8 143818378 missense variant G/A snv 1
rs1200336864
TASP1
1.000 20 13625199 stop gained G/A snv 4.0E-06 1
rs1555545033
THRA
0.807 0.160 17 40088306 missense variant C/T snv 1
rs1060499738
ACTL6B
1.000 7 100647014 missense variant C/T snv 7.0E-06 2
rs1564069651
AGTPBP1
1.000 9 85619123 missense variant T/C snv 2
rs121434350
AHI1
0.882 0.240 6 135455750 missense variant A/T snv 2
rs1060499744
ASH2L
1.000 8 38138822 missense variant A/G snv 2
rs1060499759
ATRX
1.000 X 77688879 missense variant A/T snv 2