Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1010184002
PEX6
0.689 0.400 6 42978878 stop gained C/T snv 7.0E-06 60
rs1034395178
LZTR1
0.716 0.480 22 20996071 stop gained C/A;T snv 4.0E-06; 8.0E-06 33
rs1057516031
MTM1
1.000 0.080 X 150598681 stop gained G/T snv 3
rs1057516032
ATP1A3
1.000 19 41970211 protein altering variant AGTCT/GA delins 4
rs1057516033
KAT6B
0.807 0.400 10 75025250 splice donor variant G/A snv 9
rs1057516040
NALCN
0.851 0.200 13 101292052 missense variant T/C snv 7
rs1057518345
ADNP
0.742 0.400 20 50894172 frameshift variant ACTA/- delins 25
rs1057518786
SYNGAP1
1.000 6 33441374 splice region variant G/A snv 5
rs1057518794
ARX
X 25004777 frameshift variant TCTG/- delins 1
rs1057518845
SOX5 ; LOC105369696
0.925 0.120 12 23755726 splice acceptor variant T/G snv 5
rs1057518879
PLOD1
0.776 0.280 1 11965571 stop gained G/A snv 19
rs1057518928
SOX5
1.000 0.040 12 23665471 missense variant G/A snv 3
rs1057519389
EBF3
0.695 0.400 10 129957324 missense variant C/A;G;T snv 46
rs1057519429
CACNA1A
0.807 0.240 19 13235666 missense variant C/G;T snv 14
rs1057519437
EBF3
0.851 0.240 10 129957300 missense variant C/T snv 5
rs1057519443
MPP4
0.882 0.200 2 201675255 missense variant A/G snv 7
rs1057519444
SYN3
0.925 0.120 22 32518208 missense variant GG/AA mnv 5
rs1057519450
HEATR4 ; ACOT1
14 73537826 frameshift variant AGCCGGTGCGCGCG/- delins 1
rs1057519521
EBF3
0.851 0.120 10 129963375 frameshift variant TCTC/- del 8
rs1057519566
MDH2
0.851 0.160 7 76063579 missense variant C/T snv 7
rs1057519567
MDH2
0.882 0.040 7 76063554 frameshift variant G/- delins 5
rs1057519925
PIK3CA
0.683 0.560 3 179210291 missense variant G/A;C snv 23
rs1057524157
DEAF1
0.776 0.200 11 686962 missense variant A/C;T snv 19
rs1060505041
NACC1
0.716 0.400 19 13136099 missense variant C/A;T snv 34
rs1064795559
MORC2
0.752 0.320 22 30946373 missense variant G/A snv 29