Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1057519406
rs1057519406
SHANK3
2 1.000 0.080 22 50684651 missense variant G/T snv 0.700 0
dbSNP: rs1057519408
rs1057519408
KMT2A
2 1.000 0.240 11 118499340 frameshift variant TTGT/- delins 0.700 0
dbSNP: rs1057519429
rs1057519429
CACNA1A
15 0.807 0.240 19 13235666 missense variant C/G;T snv 0.700 0
dbSNP: rs1057519443
rs1057519443
MPP4
7 0.882 0.200 2 201675255 missense variant A/G snv 0.700 0
dbSNP: rs1057519622
rs1057519622
WDR45
2 1.000 0.080 X 49078038 splice donor variant AC/- delins 0.700 0
dbSNP: rs1057521223
rs1057521223
SCN2A
5 1.000 0.040 2 165373339 stop gained G/A;T snv 0.700 0
dbSNP: rs1057524031
rs1057524031
ARHGAP4 ; NAA10
1 X 153932422 missense variant G/A snv 0.700 0
dbSNP: rs1060499733
rs1060499733
DHX30
11 0.851 0.120 3 47846757 missense variant A/G snv 0.700 0
dbSNP: rs1060499737
rs1060499737
DHX37
3 12 124968903 missense variant G/T snv 0.700 0
dbSNP: rs1060499738
rs1060499738
ACTL6B
2 1.000 7 100647014 missense variant C/T snv 7.0E-06 0.700 0
dbSNP: rs1060499739
rs1060499739
CEP97
2 1.000 3 101757754 missense variant A/G snv 0.700 0
dbSNP: rs1060499740
rs1060499740
CINP
3 14 102348559 stop lost A/C snv 0.700 0
dbSNP: rs1060499744
rs1060499744
ASH2L
2 1.000 8 38138822 missense variant A/G snv 0.700 0
dbSNP: rs1060505033
rs1060505033
ZNF711
2 1.000 0.200 X 85264383 missense variant T/C snv 0.700 0
dbSNP: rs1064797102
rs1064797102
OTUD6B ; OTUD6B-AS1
15 0.827 0.120 8 91071136 splice acceptor variant A/G snv 0.700 0
dbSNP: rs1064797103
rs1064797103
OTUD6B
9 0.827 0.280 8 91078597 missense variant A/G snv 0.700 0
dbSNP: rs1085307993
rs1085307993
GABRB2
53 0.716 0.440 5 161331056 missense variant C/T snv 0.700 0
dbSNP: rs1085308044
rs1085308044
PTEN ; KLLN
5 0.882 0.120 10 87864504 missense variant A/C snv 0.700 0
dbSNP: rs1085308045
rs1085308045
PTEN
8 0.807 0.160 10 87933128 missense variant C/G;T snv 0.700 0
dbSNP: rs1085308046
rs1085308046
PTEN
9 0.790 0.240 10 87933160 missense variant T/C;G snv 0.700 0
dbSNP: rs1085308048
rs1085308048
PTEN
6 0.851 0.320 10 87933175 stop gained T/G snv 0.700 0
dbSNP: rs1085308051
rs1085308051
PTEN
6 0.882 0.200 10 87933229 missense variant A/G snv 4.0E-06 0.700 0
dbSNP: rs1085308056
rs1085308056
PTEN
8 0.851 0.160 10 87957850 splice region variant C/G snv 0.700 0
dbSNP: rs1114167291
rs1114167291
ANKRD11
10 0.790 0.280 16 89281225 stop gained C/A snv 0.700 0
dbSNP: rs1114167292
rs1114167292
RUBCN
6 0.882 0.080 3 197704686 missense variant C/T snv 1.4E-05 0.700 0