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: rs1555455456
rs1555455456
PDIA3
1 1.000 0.200 15 43753826 missense variant G/A 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: rs1569161831
rs1569161831
CNKSR2
1 1.000 0.200 X 21426661 splice donor variant G/A snv 0.700 0
dbSNP: rs765556214
rs765556214
GRIA4
1 1.000 0.200 11 105933765 missense variant G/A;C snv 1.6E-05 4.9E-05 0.700 0
dbSNP: rs878853141
rs878853141
KDM5C ; MIR6894
1 1.000 0.200 X 53199068 missense variant C/G snv 0.700 0
dbSNP: rs878853142
rs878853142
RAI1
1 1.000 0.200 17 17795278 frameshift variant GGCAT/- delins 0.700 0
dbSNP: rs878853144
rs878853144
IQSEC2
1 1.000 0.200 X 53239213 stop gained G/A snv 0.700 0
dbSNP: rs878853145
rs878853145
SLC35A2 ; PQBP1
1 1.000 0.200 X 48903017 missense variant C/T snv 0.700 0
dbSNP: rs878853146
rs878853146
IL1RAPL1
1 1.000 0.200 X 29917576 frameshift variant TTGGGAAAGT/- delins 0.700 0
dbSNP: rs878853148
rs878853148
PHF8
1 1.000 0.200 X 54002150 splice region variant C/G snv 0.700 0
dbSNP: rs878853151
rs878853151
KDM5C
1 1.000 0.200 X 53211601 frameshift variant -/A delins 0.700 0
dbSNP: rs878853152
rs878853152
CUL4B
1 1.000 0.200 X 120547154 frameshift variant TG/- delins 0.700 0
dbSNP: rs10410239
rs10410239
CC2D1A
2 1.000 0.200 19 13919876 synonymous variant T/C snv 0.27 0.38 0.010 1.000 1 2012 2012
dbSNP: rs1335072648
rs1335072648
RAD21
2 1.000 0.200 8 116854423 missense variant C/T snv 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs141228574
rs141228574
COQ4
2 1.000 0.200 9 128332233 missense variant G/C snv 6.3E-03 5.5E-03 0.010 1.000 1 2017 2017
dbSNP: rs1427146168
rs1427146168
NUP214
2 1.000 0.200 9 131140671 stop gained C/T snv 0.010 1.000 1 2013 2013
dbSNP: rs1471281484
rs1471281484
WAPL
2 1.000 0.200 10 86500266 missense variant T/C snv 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs225010
rs225010
DIO2
2 1.000 0.200 14 80205936 intron variant C/T snv 0.51 0.010 1.000 1 2004 2004
dbSNP: rs225012
rs225012
DIO2
2 1.000 0.200 14 80204392 intron variant A/C;G snv 0.51 0.010 1.000 1 2004 2004
dbSNP: rs2276382
rs2276382
TTR
2 1.000 0.200 18 31598648 synonymous variant G/A snv 3.4E-03 1.1E-03 0.010 1.000 1 2006 2006
dbSNP: rs255012
rs255012 		2 1.000 0.200 7 41189487 regulatory region variant T/A;C snv 0.010 1.000 1 2004 2004
dbSNP: rs267608383
rs267608383
MECP2
2 1.000 0.200 X 154030643 frameshift variant TCGGGCTC/- delins 5.8E-06 0.010 1.000 1 2009 2009
dbSNP: rs267608402
rs267608402
MECP2
2 1.000 0.200 X 154030650 missense variant G/A snv 0.010 1.000 1 2009 2009
dbSNP: rs3758653
rs3758653
DRD4
2 1.000 0.200 11 636399 upstream gene variant T/C snv 0.20 0.010 1.000 1 2012 2012