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: rs16996381
rs16996381 		1 1.000 0.120 22 36115231 intergenic variant G/A snv 0.31 0.700 1.000 1 2011 2011
dbSNP: rs17297207
rs17297207
NFAT5
1 1.000 0.120 16 69609450 intron variant A/G snv 5.9E-02 0.010 1.000 1 2013 2013
dbSNP: rs17471
rs17471
LOC107986119
1 1.000 0.120 3 120098826 non coding transcript exon variant A/T snv 6.3E-02 0.010 1.000 1 2013 2013
dbSNP: rs17809399
rs17809399
LARGE1
1 1.000 0.120 22 33861145 intron variant G/A snv 0.21 0.700 1.000 1 2011 2011
dbSNP: rs1888747
rs1888747
FRMD3
2 1.000 0.120 9 83540636 upstream gene variant C/G snv 0.78 0.700 1.000 1 2009 2009
dbSNP: rs2228146
rs2228146
IL6R
3 0.925 0.120 1 154454574 missense variant G/A snv 1.3E-02; 4.0E-06 5.4E-02 0.010 1.000 1 2005 2005
dbSNP: rs2346061
rs2346061
CNDP1
1 1.000 0.120 18 74533297 upstream gene variant C/A snv 0.71 0.010 1.000 1 2011 2011
dbSNP: rs2780902
rs2780902
JAK1
1 1.000 0.120 1 64863417 intron variant C/T snv 0.35 0.700 1.000 1 2015 2015
dbSNP: rs304029
rs304029
ITPR1
1 1.000 0.120 3 4504140 intron variant A/C snv 0.35 0.700 1.000 1 2015 2015
dbSNP: rs334543
rs334543 		1 1.000 0.120 3 120113774 intron variant C/A snv 0.74 0.010 1.000 1 2013 2013
dbSNP: rs3765156
rs3765156
PIK3C2B
1 1.000 0.120 1 204455900 synonymous variant G/A snv 0.19 0.15 0.010 1.000 1 2019 2019
dbSNP: rs3807337
rs3807337
CALD1
1 1.000 0.120 7 134779071 intron variant A/G;T snv 0.010 1.000 1 2017 2017
dbSNP: rs39075
rs39075
CHN2
1 1.000 0.120 7 29237076 intron variant G/A snv 0.41 0.700 1.000 1 2009 2009
dbSNP: rs4366
rs4366
ACE
1 1.000 0.120 17 63498094 3 prime UTR variant CT/-;CTCT delins 0.010 1.000 1 2007 2007
dbSNP: rs4667466
rs4667466
KCNH7
1 1.000 0.120 2 162832637 intron variant T/C snv 0.52 0.700 1.000 1 2015 2015
dbSNP: rs4820043
rs4820043
LIMK2
1 1.000 0.120 22 31251108 intron variant A/G;T snv 0.700 1.000 1 2011 2011
dbSNP: rs5749286
rs5749286
DRG1 ; SFI1
1 1.000 0.120 22 31504373 intron variant C/A;T snv 0.700 1.000 1 2011 2011
dbSNP: rs5749682
rs5749682
LARGE1
1 1.000 0.120 22 33852326 intron variant C/A snv 0.17 0.700 1.000 1 2011 2011
dbSNP: rs5750250
rs5750250
MYH9
1 1.000 0.120 22 36312438 intron variant G/A;T snv 0.700 1.000 1 2015 2015
dbSNP: rs6499323
rs6499323
IL34
1 1.000 0.120 16 70590580 intron variant A/G snv 0.23 0.010 1.000 1 2014 2014
dbSNP: rs6930576
rs6930576
SASH1
1 1.000 0.120 6 148383818 intron variant G/A snv 0.36 0.700 1.000 1 2011 2011
dbSNP: rs7222331
rs7222331
KRTAP3-3
3 0.925 0.120 17 40995605 upstream gene variant C/T snv 0.24 0.700 1.000 1 2018 2018
dbSNP: rs735853
rs735853
MYH9
1 1.000 0.120 22 36283169 intron variant C/G snv 0.34 0.700 1.000 1 2011 2011
dbSNP: rs7577
rs7577
CNDP2
1 1.000 0.120 18 74521112 3 prime UTR variant T/A;C;G snv 0.21 0.010 1.000 1 2011 2011
dbSNP: rs758130759
rs758130759
HNF1B
3 0.925 0.120 17 37699149 missense variant C/T snv 1.6E-05 1.4E-05 0.010 1.000 1 2018 2018