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: rs7934606
rs7934606
MUC2
2 1.000 0.040 11 1100037 intron variant C/G;T snv 0.810 1.000 2 2013 2016
dbSNP: rs1001528
rs1001528
IVD
1 15 40421575 intron variant A/G snv 0.45 0.700 1.000 1 2013 2013
dbSNP: rs10069690
rs10069690
TERT
53 0.595 0.560 5 1279675 intron variant C/T snv 0.36 0.700 1.000 1 2013 2013
dbSNP: rs1007177
rs1007177
DISP2
1 15 40359637 intron variant A/G;T snv 0.700 1.000 1 2013 2013
dbSNP: rs10484326
rs10484326
DSP
1 6 7558085 intron variant T/C snv 0.20 0.21 0.700 1.000 1 2013 2013
dbSNP: rs10507391
rs10507391
ALOX5AP
10 0.776 0.320 13 30737959 intron variant A/T snv 0.52 0.010 1.000 1 2017 2017
dbSNP: rs10758593
rs10758593
GLIS3
8 0.827 0.240 9 4292083 intron variant G/A snv 0.45 0.010 1.000 1 2017 2017
dbSNP: rs10936601
rs10936601
LRRC34
2 1.000 0.160 3 169810661 intron variant C/T snv 0.37 0.700 1.000 1 2013 2013
dbSNP: rs11023590
rs11023590
LINC02689
1 11 1354730 intron variant C/T snv 0.54 0.700 1.000 1 2013 2013
dbSNP: rs11070270
rs11070270
IVD
1 15 40416223 intron variant A/G snv 0.68 0.61 0.700 1.000 1 2013 2013
dbSNP: rs11070272
rs11070272
IVD
1 15 40433064 intron variant A/G snv 0.61 0.700 1.000 1 2013 2013
dbSNP: rs11191865
rs11191865
STN1
3 0.925 0.160 10 103913084 intron variant G/A snv 0.44 0.800 1.000 1 2013 2013
dbSNP: rs12438724
rs12438724
ADAMTS7P4
1 15 85282062 intron variant C/T snv 0.41 0.700 1.000 1 2013 2013
dbSNP: rs12914315
rs12914315
IVD
1 15 40421679 intron variant A/G snv 0.61 0.700 1.000 1 2013 2013
dbSNP: rs12914710
rs12914710
IVD
1 15 40421650 intron variant G/A snv 0.59 0.700 1.000 1 2013 2013
dbSNP: rs1358904
rs1358904
DSP
1 6 7564228 intron variant C/T snv 0.31 0.700 1.000 1 2013 2013
dbSNP: rs1379326
rs1379326
CSMD1
1 8 4760288 intron variant T/C;G snv 0.800 1.000 1 2013 2013
dbSNP: rs169201
rs169201
NSF ; LRRC37A2
3 0.925 0.160 17 46712837 intron variant A/G snv 0.13 0.700 1.000 1 2013 2013
dbSNP: rs16941432
rs16941432
AKAP13
1 15 85559945 intron variant A/G snv 0.37 0.700 1.000 1 2013 2013
dbSNP: rs17563986
rs17563986
MAPT
4 1.000 0.040 17 45913906 intron variant A/G snv 0.14 0.700 1.000 1 2013 2013
dbSNP: rs1903003
rs1903003
FAM13A
4 0.925 0.080 4 88965146 intron variant C/G;T snv 0.700 1.000 1 2013 2013
dbSNP: rs1920120
rs1920120
MYNN
1 3 169784392 intron variant T/A;C snv 0.700 1.000 1 2013 2013
dbSNP: rs1980653
rs1980653
STN1
1 10 103894406 intron variant A/G snv 0.44 0.700 1.000 1 2013 2013
dbSNP: rs1984793
rs1984793
IVD
1 15 40407172 intron variant C/A snv 0.63 0.700 1.000 1 2013 2013
dbSNP: rs1992272
rs1992272
DISP2
1 15 40366769 intron variant T/C snv 0.69 0.700 1.000 1 2013 2013