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: rs2622849
rs2622849
COL11A1
1 1.000 0.120 1 102955788 intron variant T/A;C;G snv 0.700 1.000 1 2018 2018
dbSNP: rs73195662
rs73195662
CDHR3
1 1.000 0.120 7 106018014 missense variant C/A;G;T snv 7.2E-02; 2.0E-05 0.700 1.000 1 2019 2019
dbSNP: rs343604
rs343604
LOC107985174
1 1.000 0.120 1 110716148 intergenic variant T/A;C snv 0.700 1.000 1 2012 2012
dbSNP: rs4938723
rs4938723
BTG4 ; MIR34B ; MIR34C ; LOC728196
60 0.574 0.680 11 111511840 intron variant T/C snv 0.32 0.020 1.000 2 2016 2019
dbSNP: rs397507520
rs397507520
PTPN11
39 0.658 0.520 12 112453279 missense variant G/C;T snv 0.010 1.000 1 2012 2012
dbSNP: rs1057519695
rs1057519695
NRAS
35 0.641 0.520 1 114713907 missense variant TT/CA;CC mnv 0.010 1.000 1 2016 2016
dbSNP: rs1057519834
rs1057519834
NRAS
31 0.658 0.480 1 114713908 missense variant TG/CT mnv 0.010 1.000 1 2016 2016
dbSNP: rs11554290
rs11554290
NRAS
59 0.583 0.600 1 114713908 missense variant T/A;C;G snv 0.010 1.000 1 2016 2016
dbSNP: rs149940960
rs149940960
GREB1
3 1.000 0.120 2 11641492 3 prime UTR variant T/C snv 1.0E-02 0.700 1.000 1 2017 2017
dbSNP: rs2089222
rs2089222
MAP1LC3B2
2 0.925 0.200 12 116564853 intron variant G/A snv 0.12 0.800 1.000 1 2009 2009
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.070 1.000 7 2004 2015
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.100 1.000 14 2001 2019
dbSNP: rs144104656
rs144104656 		3 1.000 0.120 2 118661291 regulatory region variant A/G snv 1.1E-03 0.700 1.000 1 2017 2017
dbSNP: rs637868
rs637868
PHGDH
3 1.000 0.120 1 119714487 splice region variant T/C snv 0.56 0.700 1.000 1 2017 2017
dbSNP: rs4617118
rs4617118
CCDC26
1 1.000 0.120 8 129143897 intron variant A/C;G snv 0.20 0.700 1.000 1 2018 2018
dbSNP: rs199695765
rs199695765
CPA2
2 0.925 0.160 7 130269008 stop gained C/T snv 8.8E-05 1.3E-04 0.700 1.000 1 2016 2016
dbSNP: rs387906517
rs387906517
ABL1
6 0.827 0.120 9 130862919 missense variant G/A snv 0.010 1.000 1 2008 2008
dbSNP: rs121913448
rs121913448
ABL1
5 0.827 0.120 9 130862976 missense variant G/A snv 0.010 1.000 1 2008 2008
dbSNP: rs121913459
rs121913459
ABL1
25 0.672 0.160 9 130872896 missense variant C/T snv 0.020 1.000 2 2007 2012
dbSNP: rs1057519773
rs1057519773
ABL1
4 0.851 0.160 9 130872901 missense variant T/A;C;G snv 0.010 1.000 1 2014 2014
dbSNP: rs121913451
rs121913451
ABL1
4 0.851 0.160 9 130872903 missense variant C/A;G snv 0.010 1.000 1 2014 2014
dbSNP: rs4896310
rs4896310
LOC105378021
3 1.000 0.120 6 138018697 intergenic variant A/G;T snv 0.700 1.000 1 2017 2017
dbSNP: rs11155133
rs11155133
LOC102723724
2 0.925 0.200 6 140848688 intron variant A/G snv 8.5E-02 0.800 1.000 1 2009 2009
dbSNP: rs17007695
rs17007695 		4 0.851 0.120 4 141788570 intergenic variant T/C snv 7.7E-02 0.700 1.000 1 2009 2009
dbSNP: rs56149945
rs56149945
NR3C1
49 0.595 0.680 5 143399752 missense variant T/A;C snv 2.0E-02 0.010 1.000 1 2016 2016