Source: CURATED ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs63751438
MAPT
0.776 0.120 17 46010388 missense variant C/T snv 1
rs56268439
MECP2
1.000 0.080 X 154030639 stop gained C/A;T snv 5.8E-06; 5.8E-06; 2.2E-03 1
rs61748389
MECP2
1.000 0.080 X 154031430 missense variant C/A;T snv 1
rs1560747815
MFSD8
4 127939999 splice acceptor variant T/A snv 1
rs868732642
MFSD8
4 127938782 splice donor variant C/A;T snv 4.0E-06 1
rs1135402725
PDHX
0.851 0.120 11 34995002 stop gained C/T snv 1.2E-05 1
rs132630298
PHF6
1.000 0.200 X 134393556 missense variant G/T snv 1
rs1057517891
POLG
15 89333346 stop gained G/A snv 1
rs886041276
POLG
15 89319275 frameshift variant CCTCAGTCCTGTCCACTGGGAGGTTCAACTCCCTCACCAGCCAC/- delins 1
rs63750050
PSEN1
0.925 0.080 14 73198106 missense variant T/G snv 1
rs63751163
PSEN1
0.807 0.120 14 73192844 missense variant T/C snv 1
rs63751210
PSEN1
0.882 0.080 14 73186878 missense variant C/T snv 1
rs587777333
QARS1
0.925 0.120 3 49104420 missense variant A/G snv 4.0E-06 1
rs797045941
SCN1A-AS1 ; SCN1A
2 166051964 missense variant A/G snv 1
rs121918815
SCN1A ; LOC102724058 ; SCN1A-AS1
1.000 0.080 2 165991679 missense variant C/A snv 1
rs1553531385
SCN1A ; LOC102724058 ; SCN1A-AS1
2 166012262 frameshift variant AATA/- del 1
rs797045942
SCN2A
2 165344559 missense variant G/A;C snv 1
rs202151337
SCN8A
0.925 0.160 12 51806788 missense variant A/G snv 1
rs587776703
SCN8A
0.925 0.040 12 51806642 frameshift variant CT/- del 7.0E-06 1
rs122453114
SLC6A8
1.000 0.120 X 153693586 missense variant G/C snv 1
rs1131692040
SNORA70 ; RPL10
0.882 0.160 X 154399844 missense variant A/G snv 1
rs370243877
SP2-AS1 ; PNPO
1.000 0.160 17 47941773 missense variant A/T snv 1.1E-04 1.3E-04 1
rs1567379470
STX1B
16 31001195 splice acceptor variant T/C snv 1
rs780843272
STX1B
16 30993183 stop gained G/A;C snv 7.0E-06 1
rs398122403
SYNJ1
0.807 0.080 21 32695106 missense variant C/T snv 1.2E-05 1