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: rs104894251
rs104894251
KCNJ1
2 1.000 0.120 11 128839929 missense variant A/G;T snv 0.010 1.000 1 1998 1998
dbSNP: rs11614913
rs11614913
HOXC6 ; MIR196A2
111 0.512 0.760 12 53991815 mature miRNA variant C/T snv 0.39 0.34 0.010 1.000 1 2017 2017
dbSNP: rs119471022
rs119471022
HPS4
3 0.925 0.200 22 26470774 stop gained G/A;T snv 0.010 1.000 1 2013 2013
dbSNP: rs145036301
rs145036301
ECSIT
5 0.851 0.120 19 11513899 missense variant A/G snv 2.7E-03 9.4E-04 0.010 1.000 1 2018 2018
dbSNP: rs1799983
rs1799983
NOS3
246 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 0.010 1.000 1 2015 2015
dbSNP: rs243865
rs243865
MMP2
48 0.600 0.640 16 55477894 intron variant C/T snv 0.19 0.010 1.000 1 2018 2018
dbSNP: rs3918242
rs3918242
MMP9
54 0.602 0.680 20 46007337 upstream gene variant C/T snv 0.14 0.010 1.000 1 2018 2018
dbSNP: rs62106244
rs62106244
DNMT1
1 19 10163444 intron variant C/T snv 3.5E-02 0.010 1.000 1 2011 2011
dbSNP: rs752317734
rs752317734
DECR1
5 0.851 0.120 8 90020913 missense variant T/C snv 4.9E-06 0.010 1.000 1 2018 2018
dbSNP: rs769446880
rs769446880
HPS1
1 10 98423772 stop gained G/A snv 4.0E-06 0.010 1.000 1 2013 2013