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: rs1278838206
rs1278838206
PCDH19
3 0.925 0.200 X 100296654 missense variant C/T snv 1.1E-05 0.010 1.000 1 2016 2016
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: rs786201003
rs786201003
NALCN
3 0.925 0.080 13 101083752 missense variant C/T snv 0.010 1.000 1 2015 2015
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: rs1177566365
rs1177566365
RIMS2
1 8 103766303 missense variant G/T snv 4.0E-06 7.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs187438258
rs187438258
MYH2 ; MYHAS
2 17 10525806 missense variant G/A snv 8.6E-04 1.9E-04 0.010 1.000 1 2018 2018
dbSNP: rs202198533
rs202198533
MYH2 ; MYHAS
2 17 10533547 missense variant C/T snv 1.6E-04 1.0E-04 0.010 1.000 1 2018 2018
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: rs536289169
rs536289169
GSTM1 ; GSTM2
13 0.752 0.360 1 109688180 missense variant C/T snv 4.8E-04 0.010 1.000 1 2014 2014
dbSNP: rs886041761
rs886041761
KCNA2
6 0.925 0.200 1 110603902 missense variant C/T snv 0.010 1.000 1 2016 2016
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: rs1301796529
rs1301796529
LDLR ; MIR6886
1 19 11113444 missense variant C/G snv 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs121434612
rs121434612
PAK3
2 1.000 0.080 X 111142119 missense variant C/T snv 0.010 1.000 1 2000 2000
dbSNP: rs121434613
rs121434613
PAK3
4 0.882 0.240 X 111194402 missense variant C/A snv 0.020 1.000 2 2003 2020
dbSNP: rs121434614
rs121434614
PAK3
3 0.925 0.200 X 111196570 missense variant G/C snv 0.010 1.000 1 2007 2007
dbSNP: rs1445362103
rs1445362103
ARHGEF7
2 1.000 0.040 13 111244248 missense variant T/C snv 1.2E-05 7.0E-06 0.010 1.000 1 2000 2000
dbSNP: rs863225264
rs863225264
MTOR
6 0.827 0.240 1 11130747 missense variant C/T snv 0.020 1.000 2 2015 2016
dbSNP: rs150263896
rs150263896
ZBTB20
1 3 114339010 missense variant C/T snv 1.1E-05 7.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs879255635
rs879255635
ZBTB20
1 3 114339384 missense variant G/A snv 0.010 1.000 1 2016 2016
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: 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: rs1476413
rs1476413
MTHFR
10 0.790 0.360 1 11792243 intron variant C/G;T snv 4.0E-06; 0.26 0.23 0.010 1.000 1 2011 2011
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.020 1.000 2 2008 2008
dbSNP: rs1801131
rs1801131
MTHFR
93 0.535 0.840 1 11794419 missense variant T/G snv 0.29 0.26 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