Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs121909224
PTEN
0.627 0.560 10 87933147 stop gained C/G;T snv 1.2E-05 35
rs137854539
GNAS
0.716 0.520 20 58903703 missense variant C/T snv 27
rs1057518083
DYNC1H1
0.851 0.120 14 101986552 missense variant C/T snv 21
rs104894396
GJB2
0.672 0.400 13 20189511 stop gained C/T snv 5.8E-04 1.1E-04 21
rs1562114190
IRAK1BP1 ; PHIP
0.790 0.160 6 78946061 frameshift variant A/- delins 21
rs1085307845
PHIP
0.752 0.320 6 79025582 missense variant G/T snv 21
rs1554210073
PHIP
0.752 0.320 6 79042844 frameshift variant GT/A delins 21
rs1131691771
PHIP ; IRAK1BP1
0.807 0.160 6 78958469 splice donor variant ACTT/- delins 18
rs121913293
PTEN
0.732 0.360 10 87952142 missense variant C/A;T snv 18
rs1555565492
RAI1
0.776 0.160 17 17795417 frameshift variant -/G delins 18
rs201431517
MTFMT
0.827 0.200 15 65021533 missense variant G/A snv 3.5E-04 5.7E-04 17
rs758361736
KIF7
0.776 0.240 15 89649836 missense variant T/G snv 1.3E-05 1.4E-05 16
rs1555640521
LAMA1
0.790 0.320 18 6942110 frameshift variant A/- delins 15
rs1555247672
MED13L
0.827 0.200 12 116007542 stop gained G/A snv 14
rs1562150844
PHIP
0.790 0.280 6 78982908 frameshift variant CTTT/- delins 14
rs587776667
PTEN
0.742 0.280 10 87931090 splice donor variant G/A;C;T snv 14
rs1562134961
IRAK1BP1 ; PHIP
0.776 0.320 6 78969879 frameshift variant A/- delins 13
rs149617956
MITF
0.672 0.560 3 69964940 missense variant G/A snv 1.4E-03 1.6E-03 12
rs142441643
SDHA
0.732 0.320 5 223509 stop gained C/T snv 2.0E-04 2.4E-04 12
rs121913294
PTEN
0.776 0.280 10 87952143 missense variant G/A;C;T snv 8.0E-06 11
rs1131691299
DDX3X
0.882 0.160 X 41341587 frameshift variant C/- del 9
rs386834070
VPS13B
0.851 0.360 8 99134644 stop gained C/T snv 9
rs121909323
CACNA1A
0.790 0.160 19 13277122 stop gained G/A snv 8
rs1085308045
PTEN
0.807 0.160 10 87933128 missense variant C/G;T snv 8
rs1085308056
PTEN
0.851 0.160 10 87957850 splice region variant C/G snv 8