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: 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: rs672601376
rs672601376
GRIN2B ; LOC105369668
3 0.925 0.040 12 13608760 missense variant A/C snv 0.010 1.000 1 2014 2014
dbSNP: rs1404008939
rs1404008939
ABCB1
4 0.925 0.200 7 87504324 missense variant A/C;G snv 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs16827801
rs16827801
HTR2B ; PSMD1
1 2 231116063 intron variant A/C;G snv 0.40 0.010 1.000 1 2014 2014
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: rs267607048
rs267607048
SHOC2
16 0.752 0.560 10 110964362 missense variant A/G snv 7.0E-06 0.700 1.000 2 2009 2012
dbSNP: rs104886492
rs104886492
HSD17B10
3 1.000 0.120 X 53432410 missense variant A/G snv 0.010 1.000 1 2011 2011
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs121917899
rs121917899
PQBP1
2 1.000 0.080 X 48901944 missense variant A/G snv 0.010 1.000 1 2016 2016
dbSNP: rs121918524
rs121918524
PHF8
6 0.827 0.200 X 54011232 missense variant A/G snv 0.010 1.000 1 2010 2010
dbSNP: rs145390085
rs145390085
L2HGDH
2 1.000 0.040 14 50269297 missense variant A/G snv 0.010 1.000 1 2016 2016
dbSNP: rs4880
rs4880
SOD2
131 0.500 0.840 6 159692840 missense variant A/G snv 0.48 0.47 0.010 1.000 1 2014 2014
dbSNP: rs551253128
rs551253128
MID2 ; LOC101928335
1 X 107905581 missense variant A/G snv 1.3E-03 1.6E-04 0.010 1.000 1 2014 2014
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: rs768560449
rs768560449
IMMT
2 1.000 0.160 2 86166521 missense variant A/G snv 8.1E-06 7.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs864309721
rs864309721
CDC42
2 1.000 1 22086451 missense variant A/G snv 0.010 1.000 1 2019 2019
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: rs968910165
rs968910165
NCAM2
1 21 21286370 missense variant A/G;T snv 4.0E-06 1.4E-05 0.010 1.000 1 2016 2016
dbSNP: rs121434613
rs121434613
PAK3
4 0.882 0.240 X 111194402 missense variant C/A snv 0.020 1.000 2 2003 2020
dbSNP: rs397514627
rs397514627
CAMK2G
5 0.882 0.160 10 73842486 missense variant C/A;G snv 0.010 1.000 1 2018 2018
dbSNP: rs200115000
rs200115000
CAMK2B
2 1.000 0.160 7 44220165 missense variant C/A;G;T snv 2.6E-04; 5.8E-05 0.010 1.000 1 2018 2018
dbSNP: rs374073809
rs374073809
VASH2
1 1 212961166 missense variant C/A;G;T snv 4.0E-06; 1.6E-05; 3.2E-05 0.010 1.000 1 2019 2019
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: rs185645212
rs185645212
POLG
6 0.851 0.240 15 89323504 missense variant C/A;T snv 8.0E-06; 9.7E-04 0.010 1.000 1 2010 2010
dbSNP: rs45517305
rs45517305
TSC2
5 0.851 0.240 16 2081646 stop gained C/A;T snv 0.010 1.000 1 1998 1998