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: rs878853143
rs878853143
GRIN1
2 0.925 0.200 9 137162209 missense variant C/G;T snv 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: rs878853147
rs878853147
NLGN3
3 0.925 0.200 X 71169399 missense variant C/T snv 0.700 0
dbSNP: rs878853148
rs878853148
PHF8
1 1.000 0.200 X 54002150 splice region variant C/G snv 0.700 0
dbSNP: rs878853149
rs878853149
TCF4
2 0.925 0.240 18 55350388 stop gained G/A 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: 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: rs118203933
rs118203933
CA2
6 0.925 0.360 8 85473779 missense variant C/T snv 8.0E-06 0.010 1.000 1 1992 1992
dbSNP: rs132630328
rs132630328
GK
3 0.925 0.200 X 30720721 missense variant A/G;T snv 5.4E-06 0.010 1.000 1 1996 1996
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: rs122460151
rs122460151
ARSL
5 0.851 0.280 X 2958423 missense variant C/G snv 7.1E-05 3.8E-05 0.010 1.000 1 1999 1999
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: rs121434613
rs121434613
PAK3
4 0.882 0.240 X 111194402 missense variant C/A snv 0.010 1.000 1 2003 2003
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: rs255012
rs255012 		2 1.000 0.200 7 41189487 regulatory region variant T/A;C snv 0.010 1.000 1 2004 2004
dbSNP: rs28934908
rs28934908
MECP2
23 0.732 0.280 X 154031409 missense variant G/A;T snv 5.5E-06 0.030 1.000 3 2002 2005
dbSNP: rs28934904
rs28934904
MECP2
9 0.776 0.200 X 154031431 missense variant G/A;C;T snv 0.010 1.000 1 2005 2005
dbSNP: rs121918364
rs121918364
SRPX2
5 0.851 0.200 X 100662227 missense variant A/C snv 3.3E-05 2.9E-05 0.010 1.000 1 2006 2006
dbSNP: rs121965020
rs121965020
IDUA ; SLC26A1
6 0.827 0.280 4 987858 stop gained C/T snv 4.7E-04 6.1E-04 0.010 1.000 1 2006 2006
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