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: rs10494964
rs10494964
LOC105372912
2 1 213793544 intron variant T/C snv 0.45 0.700 1.000 1 2016 2016
dbSNP: rs11122272
rs11122272
EXOC8
1 1 231335026 3 prime UTR variant A/G snv 0.55 0.700 1.000 1 2016 2016
dbSNP: rs1181870
rs1181870
CCDC27
1 1 3768390 intron variant C/A snv 0.23 0.700 1.000 1 2016 2016
dbSNP: rs12127588
rs12127588 		2 1 198626376 intergenic variant G/A;C;T snv 0.700 1.000 1 2010 2010
dbSNP: rs2230657
rs2230657
NASP
1 1 45607817 synonymous variant G/A snv 0.52 0.55 0.700 1.000 1 2016 2016
dbSNP: rs366684
rs366684
PROX1
3 1 214013919 intron variant G/A;C snv 0.700 1.000 1 2018 2018
dbSNP: rs3811444
rs3811444
TRIM58
12 1 247876149 missense variant C/T snv 0.31 0.26 0.700 1.000 1 2016 2016
dbSNP: rs4133289
rs4133289
LINC02819
3 1 159484147 downstream gene variant C/T snv 0.16 0.700 1.000 1 2007 2007
dbSNP: rs4950322
rs4950322
LINC00624
2 1 147383114 non coding transcript exon variant G/A snv 0.18 0.700 1.000 1 2008 2008
dbSNP: rs4951074
rs4951074
ATP2B4
3 1.000 0.040 1 203691653 intron variant A/G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs533281866
rs533281866
EGLN1
3 1 231422308 intron variant G/A;C snv 0.700 1.000 1 2016 2016
dbSNP: rs554019
rs554019
DNM3
1 1 172171408 intron variant C/T snv 0.49 0.700 1.000 1 2016 2016
dbSNP: rs61804164
rs61804164
FCGR2B
1 1 161653235 intergenic variant G/C snv 1.0E-01 0.700 1.000 1 2016 2016
dbSNP: rs6665764
rs6665764
PROX1
1 1 214004080 intron variant G/A snv 0.27 0.700 1.000 1 2016 2016
dbSNP: rs6684514
rs6684514
SMG5 ; TMEM79
4 0.925 0.120 1 156285665 missense variant G/A snv 0.27 0.24 0.700 1.000 1 2010 2010
dbSNP: rs760077
rs760077
MTX1 ; THBS3
8 0.925 0.120 1 155208991 missense variant T/A snv 0.36 0.700 1.000 1 2016 2016
dbSNP: rs10495928
rs10495928
PRKCE
5 2 46126027 intron variant A/G snv 0.36 0.800 1.000 2 2009 2016
dbSNP: rs10168349
rs10168349
PRKCE
4 2 46133768 intron variant G/C snv 0.36 0.700 1.000 1 2018 2018
dbSNP: rs114948639
rs114948639
PRKCE
3 2 46066687 intron variant C/T snv 7.2E-03 0.700 1.000 1 2016 2016
dbSNP: rs1160297
rs1160297
LOC105369165
3 2 53010182 intergenic variant G/C snv 0.69 0.700 1.000 1 2007 2007
dbSNP: rs11689538
rs11689538
TFCP2L1
3 2 121238062 intron variant G/C snv 0.11 0.700 1.000 1 2016 2016
dbSNP: rs13008603
rs13008603
PRKCE
5 2 46128709 intron variant C/A snv 0.10 0.700 1.000 1 2017 2017
dbSNP: rs17034641
rs17034641
PRKCE
3 2 46145505 intron variant G/A snv 0.16 0.700 1.000 1 2017 2017
dbSNP: rs17773190
rs17773190
LINC01118
3 2 46803224 intron variant A/G snv 0.32 0.700 1.000 1 2016 2016
dbSNP: rs17799476
rs17799476
PRKCE
2 2 46125187 intron variant C/G snv 0.13 0.700 1.000 1 2016 2016