Source: CURATED ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs587777893
MTOR
0.658 0.240 1 11128107 missense variant G/A;T snv 67
rs61753219
PEX6
0.672 0.400 6 42978330 missense variant G/A snv 3.6E-05 2.8E-05 64
rs1276519904
H3-3A
0.645 0.520 1 226071445 missense variant A/G snv 63
rs1010184002
PEX6
0.689 0.400 6 42978878 stop gained C/T snv 7.0E-06 60
rs886040971
TRPS1
0.683 0.280 8 115604339 stop gained G/A;T snv 56
rs1085307993
GABRB2
0.716 0.440 5 161331056 missense variant C/T snv 53
rs1553621496
UNC80
0.677 0.440 2 209976305 splice donor variant T/G snv 53
rs200661329
PIGQ
0.708 0.440 16 576255 splice donor variant G/A;C snv 5.7E-05 48
rs752298579
TANGO2
0.701 0.480 22 20061538 missense variant G/A snv 1.4E-04 7.0E-06 48
rs1557036768
HUWE1
0.708 0.320 X 53647390 missense variant C/T snv 44
rs866294686
TRIM8 ; LOC105378460
0.683 0.480 10 102657073 stop gained C/A;T snv 43
rs587782995
PURA
0.708 0.360 5 140114480 missense variant T/C snv 42
rs28934906
MECP2
0.716 0.320 X 154031355 missense variant G/A snv 40
rs1364709483
TBX2-AS1 ; TBX2
0.701 0.360 17 61400235 missense variant G/A snv 6.5E-05 36
rs369160589
ALG1
0.742 0.400 16 5082676 splice region variant A/G snv 1.0E-04 1.3E-04 35
rs387907145
ROGDI
0.695 0.440 16 4800548 stop gained G/A snv 35
rs1009298200
ALG1
0.742 0.400 16 5079077 missense variant C/G;T snv 7.0E-06 34
rs113871094
FBN1
0.683 0.320 15 48465820 stop gained G/A snv 34
rs1555452127
ALG1
0.742 0.400 16 5079078 missense variant T/C snv 34
rs1559931177
QRICH1
0.827 0.120 3 49047207 stop gained G/A snv 34
rs387907144
ARID1B
0.716 0.600 6 157181056 stop gained C/A;T snv 34
rs1057524820
SCN8A
0.776 0.280 12 51765746 missense variant G/A;T snv 33
rs370717845
HGSNAT
0.763 0.320 8 43161462 missense variant G/A snv 33
rs80338945
GJB2
0.695 0.440 13 20189313 missense variant A/G snv 6.4E-04 6.4E-04 32
rs1555968941
CACNA1C
0.752 0.280 12 2653847 missense variant G/A;C snv 31