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: rs1552224
rs1552224
ARAP1
4 1.000 0.080 11 72722053 5 prime UTR variant A/C snv 0.12 0.820 1.000 8 2010 2018
dbSNP: rs10440833
rs10440833
CDKAL1
1 1.000 0.080 6 20687890 intron variant T/A;G snv 0.26 0.820 1.000 7 2010 2019
dbSNP: rs10923931
rs10923931
NOTCH2
3 0.925 0.120 1 119975336 intron variant G/T snv 0.17 0.820 1.000 7 2007 2017
dbSNP: rs2028299
rs2028299
AP3S2 ; ARPIN-AP3S2
2 0.925 0.120 15 89831025 3 prime UTR variant C/A snv 0.72 0.820 1.000 6 2011 2018
dbSNP: rs243021
rs243021 		1 1.000 0.080 2 60357684 intron variant G/A snv 0.45 0.820 1.000 6 2010 2017
dbSNP: rs516946
rs516946
ANK1 ; MIR486-1
1 1.000 0.080 8 41661730 non coding transcript exon variant T/A;C snv 0.78 0.820 1.000 6 2012 2018
dbSNP: rs7578326
rs7578326
LOC646736
7 0.882 0.080 2 226155937 TF binding site variant A/G snv 0.36 0.820 1.000 6 2010 2018
dbSNP: rs17584499
rs17584499
PTPRD
3 0.925 0.080 9 8879118 intron variant C/T snv 0.14 0.820 1.000 5 2010 2016
dbSNP: rs391300
rs391300
SRR
4 0.882 0.160 17 2312964 intron variant T/C snv 0.58 0.820 1.000 5 2010 2018
dbSNP: rs4689388
rs4689388
WFS1
4 0.882 0.360 4 6268329 upstream gene variant G/A snv 0.64 0.820 1.000 5 2009 2017
dbSNP: rs7041847
rs7041847
GLIS3
2 1.000 0.080 9 4287466 intron variant A/G snv 0.37 0.820 1.000 5 2011 2019
dbSNP: rs17106184
rs17106184
FAF1
3 0.925 0.080 1 50444313 intron variant G/A snv 8.5E-02 0.820 1.000 4 2014 2017
dbSNP: rs3130501
rs3130501
POU5F1
4 0.851 0.280 6 31168676 intron variant A/G snv 0.78 0.820 0.750 4 2014 2017
dbSNP: rs6813195
rs6813195 		1 1.000 0.080 4 152599323 intergenic variant C/T snv 0.34 0.820 1.000 4 2014 2017
dbSNP: rs6931514
rs6931514
CDKAL1
3 0.925 0.120 6 20703721 intron variant A/G snv 0.27 0.820 1.000 4 2007 2012
dbSNP: rs1436955
rs1436955 		1 1.000 0.080 15 62112183 regulatory region variant C/T snv 0.30 0.820 1.000 3 2010 2015
dbSNP: rs3786897
rs3786897
PEPD
5 1.000 0.080 19 33402102 intron variant A/G snv 0.45 0.820 0.667 3 2011 2019
dbSNP: rs4712524
rs4712524
CDKAL1
2 0.925 0.120 6 20657634 intron variant A/G snv 0.40 0.820 1.000 3 2008 2019
dbSNP: rs7119
rs7119
HMG20A
1 1.000 0.080 15 77485290 3 prime UTR variant C/T snv 0.43 0.820 1.000 3 2011 2018
dbSNP: rs9472138
rs9472138
LOC107986598
6 0.882 0.160 6 43844025 downstream gene variant C/T snv 0.24 0.820 1.000 3 2012 2014
dbSNP: rs10229583
rs10229583 		2 1.000 0.080 7 127606849 downstream gene variant G/A snv 0.23 0.820 1.000 2 2013 2018
dbSNP: rs6723108
rs6723108
TMEM163 ; LOC105373629
1 1.000 0.080 2 134722410 non coding transcript exon variant G/T snv 0.72 0.820 1.000 2 2013 2015
dbSNP: rs7403531
rs7403531
RASGRP1
1 1.000 0.080 15 38530704 intron variant T/C;G snv 0.77 0.820 1.000 2 2013 2015
dbSNP: rs9552911
rs9552911
SGCG
1 1.000 0.080 13 23290518 intron variant G/A snv 1.2E-02 0.820 1.000 2 2013 2017
dbSNP: rs163184
rs163184
KCNQ1
1 1.000 0.080 11 2825839 intron variant T/G snv 0.40 0.810 1.000 8 2010 2018