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: rs45517305
rs45517305
TSC2
5 0.851 0.240 16 2081646 stop gained C/A;T snv 0.010 1.000 1 1998 1998
dbSNP: rs4846049
rs4846049
MTHFR ; C1orf167
11 0.776 0.360 1 11790308 3 prime UTR variant T/A;G snv 0.010 1.000 1 2011 2011
dbSNP: rs5030849
rs5030849
PAH
6 0.851 0.280 12 102852875 missense variant C/A;G;T snv 2.2E-04 0.010 1.000 1 1991 1991
dbSNP: rs587776690
rs587776690
ATR
4 0.882 0.280 3 142556439 synonymous variant T/C snv 0.010 1.000 1 2017 2017
dbSNP: rs587777696
rs587777696
SLC1A1 ; SPATA6L
3 0.925 0.280 9 4585316 missense variant C/T snv 4.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs61748392
rs61748392
MECP2
3 0.925 0.200 X 154031418 missense variant T/C snv 0.010 1.000 1 2001 2001
dbSNP: rs61748420
rs61748420
MECP2
5 0.851 0.200 X 154031329 missense variant G/A;T snv 0.010 1.000 1 2001 2001
dbSNP: rs61749735
rs61749735
MECP2
3 0.925 0.200 X 154031162 synonymous variant G/A;C snv 5.4E-06; 3.8E-05 0.010 1.000 1 2006 2006
dbSNP: rs749457448
rs749457448
DLG3 ; DLG3-AS1
2 1.000 0.200 X 70452622 start lost A/G snv 0.010 1.000 1 2008 2008
dbSNP: rs762578331
rs762578331
UPF3B
3 0.925 0.200 X 119837939 missense variant G/A;T snv 8.2E-05; 5.5E-06 0.010 1.000 1 2010 2010
dbSNP: rs864309503
rs864309503
MORC2
5 0.882 0.200 22 30941503 missense variant G/A snv 0.010 1.000 1 2017 2017
dbSNP: rs122445108
rs122445108
ATRX
7 0.807 0.320 X 77717155 stop gained G/A snv 0.700 0
dbSNP: rs122455132
rs122455132
SLC16A2
2 0.925 0.200 X 74529232 missense variant T/C snv 0.700 0
dbSNP: rs1555050158
rs1555050158
GRIA4
2 0.925 0.200 11 105926808 missense variant A/T snv 0.700 0
dbSNP: rs1555050165
rs1555050165
GRIA4
3 0.925 0.200 11 105926814 missense variant A/G snv 0.700 0
dbSNP: rs1555050171
rs1555050171
GRIA4
2 0.925 0.200 11 105926821 missense variant C/G snv 0.700 0
dbSNP: rs1555050174
rs1555050174
GRIA4
2 0.925 0.200 11 105926824 missense variant C/T snv 0.700 0
dbSNP: rs1555455456
rs1555455456
PDIA3
1 1.000 0.200 15 43753826 missense variant G/A snv 0.700 0
dbSNP: rs1555661648
rs1555661648
AQP4 ; AQP4-AS1
6 0.882 0.240 18 26862297 missense variant C/G snv 0.700 0
dbSNP: rs1555910048
rs1555910048
SHANK3
1 1.000 0.200 22 50720739 frameshift variant -/CCGTGGGCAGCCCCGG delins 0.700 0
dbSNP: rs1562928193
rs1562928193
KMT2E
1 1.000 0.200 7 105102045 frameshift variant -/TA delins 0.700 0
dbSNP: rs1569146649
rs1569146649
TCF20
2 1.000 0.200 22 42211545 frameshift variant -/T delins 0.700 0
dbSNP: rs1569161831
rs1569161831
CNKSR2
1 1.000 0.200 X 21426661 splice donor variant G/A snv 0.700 0
dbSNP: rs28935468
rs28935468
MECP2
17 0.732 0.240 X 154030912 missense variant G/A snv 0.700 0
dbSNP: rs397515486
rs397515486
HCFC1
2 0.925 0.200 X 153964702 missense variant G/A snv 0.700 0