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: rs1057515420
rs1057515420
EPHB4
1 1.000 0.080 7 100819874 missense variant G/A snv 0.700 1.000 2 2009 2016
dbSNP: rs121908601
rs121908601
ZFPM2
4 0.851 0.080 8 105419192 missense variant A/C;G snv 4.0E-06; 2.7E-03 0.700 1.000 2 2003 2011
dbSNP: rs187043152
rs187043152
ZFPM2 ; ZFPM2-AS1
4 0.851 0.080 8 105801714 missense variant G/A;T snv 3.4E-03; 4.0E-06 0.800 0
dbSNP: rs28374544
rs28374544
ZFPM2 ; ZFPM2-AS1
1 1.000 0.080 8 105802051 missense variant A/G snv 1.1E-02 4.4E-02 0.700 0
dbSNP: rs121908603
rs121908603
ZFPM2 ; ZFPM2-AS1
3 0.882 0.120 8 105802189 missense variant A/C;G snv 4.9E-04; 4.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs1448468136
rs1448468136
ZFPM2 ; ZFPM2-AS1
1 1.000 0.080 8 105802610 missense variant C/A;T snv 0.010 1.000 1 2014 2014
dbSNP: rs145895196
rs145895196
JAG1
2 0.925 0.120 20 10641566 missense variant C/A;T snv 1.6E-05; 1.9E-03 0.010 1.000 1 2013 2013
dbSNP: rs769531968
rs769531968
JAG1
2 0.925 0.120 20 10643807 missense variant G/A snv 4.0E-06 7.0E-06 0.800 1.000 2 2001 2010
dbSNP: rs28939668
rs28939668
JAG1
6 0.807 0.200 20 10652533 missense variant C/T snv 0.830 1.000 4 2001 2010
dbSNP: rs1131695
rs1131695
JAG1
1 1.000 0.080 20 10652589 stop gained G/A;C;T snv 0.46 0.010 1.000 1 2018 2018
dbSNP: rs121918351
rs121918351
JAG1
3 0.882 0.240 20 10658611 missense variant C/T snv 0.700 0
dbSNP: rs3184504
rs3184504
ATXN2 ; SH2B3
92 0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67 0.700 1.000 1 2013 2013
dbSNP: rs653178
rs653178
ATXN2
41 0.672 0.600 12 111569952 intron variant C/T snv 0.67 0.700 1.000 1 2013 2013
dbSNP: rs11065987
rs11065987 		17 0.807 0.280 12 111634620 intergenic variant A/G snv 0.29 0.800 1.000 1 2013 2013
dbSNP: rs17696736
rs17696736
NAA25
18 0.827 0.240 12 112049014 intron variant A/G snv 0.30 0.700 1.000 1 2013 2013
dbSNP: rs11066188
rs11066188
HECTD4
7 0.851 0.320 12 112172910 intron variant G/A;C snv 0.30; 4.1E-06 0.700 1.000 1 2013 2013
dbSNP: rs11066320
rs11066320
PTPN11
5 0.925 0.120 12 112468611 intron variant A/G snv 0.70 0.710 1.000 2 2012 2013
dbSNP: rs233722
rs233722
RPH3A
1 1.000 0.080 12 112593670 intron variant G/A snv 0.53 0.700 1.000 1 2013 2013
dbSNP: rs233716
rs233716
RPH3A
1 1.000 0.080 12 112602139 intron variant C/T snv 0.58 0.700 1.000 1 2013 2013
dbSNP: rs864321699
rs864321699
GATA4
2 1.000 0.080 8 11708337 missense variant G/A;C snv 0.700 0
dbSNP: rs387906769
rs387906769
GATA4
7 0.807 0.080 8 11708799 missense variant C/T snv 7.3E-05 4.2E-05 0.710 1.000 1 2010 2010
dbSNP: rs17153694
rs17153694
GATA4
4 0.851 0.160 8 11730972 intron variant C/T snv 0.12 0.010 1.000 1 2019 2019
dbSNP: rs771792843
rs771792843
GATA4
1 1.000 0.080 8 11749060 missense variant C/T snv 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs804280
rs804280
GATA4
6 0.882 0.120 8 11755189 intron variant C/A;G snv 0.010 1.000 1 2015 2015
dbSNP: rs4841587
rs4841587
GATA4
3 1.000 0.080 8 11756666 non coding transcript exon variant G/T snv 0.37 0.010 1.000 1 2015 2015