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: rs13042395
rs13042395
SLC52A3
13 0.752 0.160 20 773867 intron variant C/T snv 5.9E-02 0.730 0.750 4 2010 2016
dbSNP: rs10931936
rs10931936
CASP8
6 0.827 0.120 2 201279205 intron variant T/C snv 0.72 0.710 1.000 2 2012 2017
dbSNP: rs11066280
rs11066280
HECTD4
27 0.742 0.280 12 112379979 intron variant T/A snv 7.0E-03 0.800 1.000 2 2010 2011
dbSNP: rs12263737
rs12263737
PLCE1 ; PLCE1-AS1
2 1.000 0.080 10 94285156 intron variant G/A snv 0.32 0.700 1.000 2 2010 2012
dbSNP: rs13016963
rs13016963
FLACC1
5 0.851 0.080 2 201298088 intron variant A/G snv 0.59 0.710 1.000 2 2012 2017
dbSNP: rs1800896
rs1800896
IL10 ; IL19
113 0.507 0.800 1 206773552 intron variant T/C snv 0.41 0.020 1.000 2 2015 2016
dbSNP: rs2074356
rs2074356
HECTD4
18 0.763 0.280 12 112207597 intron variant G/A snv 3.8E-03 0.800 1.000 2 2010 2011
dbSNP: rs3781264
rs3781264
PLCE1
5 0.851 0.120 10 94310618 intron variant A/G snv 0.25 0.700 1.000 2 2010 2012
dbSNP: rs3787016
rs3787016
POLR2E
24 0.677 0.280 19 1090804 intron variant A/G snv 0.78 0.020 1.000 2 2015 2019
dbSNP: rs3805322
rs3805322
ADH4 ; LOC100507053
2 1.000 0.080 4 99135847 intron variant A/G snv 1.1E-02 0.800 1.000 2 2010 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 2013 2018
dbSNP: rs6682925
rs6682925
IL23R ; C1orf141
11 0.776 0.160 1 67165579 intron variant C/T snv 0.47 0.020 1.000 2 2012 2019
dbSNP: rs738722
rs738722
CHEK2
4 0.882 0.120 22 28734024 intron variant T/C snv 0.67 0.810 1.000 2 2010 2012
dbSNP: rs1000668
rs1000668
TMC1
1 9 72790943 intron variant T/A;G snv 0.700 1.000 1 2012 2012
dbSNP: rs10052657
rs10052657
PDE4D
7 0.807 0.120 5 59111944 intron variant C/A snv 0.17 0.700 1.000 1 2011 2011
dbSNP: rs10058728
rs10058728
CSNK1A1
2 1.000 0.080 5 149524529 intron variant A/T snv 0.64 0.700 1.000 1 2011 2011
dbSNP: rs10069690
rs10069690
TERT
53 0.595 0.560 5 1279675 intron variant C/T snv 0.36 0.010 1.000 1 2017 2017
dbSNP: rs10186527
rs10186527
FLACC1
1 2 201335852 intron variant C/T snv 0.54 0.700 1.000 1 2012 2012
dbSNP: rs10191793
rs10191793
ST6GAL2
1 2 106809420 intron variant A/G snv 0.21 0.700 1.000 1 2012 2012
dbSNP: rs10197246
rs10197246
FLACC1
1 2 201340018 intron variant T/C snv 0.72 0.700 1.000 1 2012 2012
dbSNP: rs10201587
rs10201587
FLACC1
1 2 201338068 intron variant A/G snv 0.47 0.700 1.000 1 2012 2012
dbSNP: rs10274928
rs10274928
JAZF1
2 7 28102469 intron variant A/G;T snv 0.700 1.000 1 2012 2012
dbSNP: rs10454127
rs10454127
FLACC1
1 2 201347651 intron variant G/A;T snv 0.700 1.000 1 2012 2012
dbSNP: rs10509670
rs10509670
PLCE1
5 0.851 0.080 10 94308190 intron variant A/G snv 0.30 0.010 1.000 1 2019 2019
dbSNP: rs11051196
rs11051196
TSPAN11
1 12 30980130 intron variant C/T snv 0.27 0.700 1.000 1 2012 2012