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: rs1065356
rs1065356
MPIG6B ; LY6G6C
1 1.000 0.120 6 31719231 synonymous variant G/A snv 0.27 0.31 0.700 1.000 1 2007 2007
dbSNP: rs10743152
rs10743152
TH
1 1.000 0.120 11 2174751 upstream gene variant T/C snv 0.63 0.700 1.000 1 2007 2007
dbSNP: rs10766196
rs10766196
CYP2R1
2 0.925 0.120 11 14891585 5 prime UTR variant A/G snv 0.35 0.010 1.000 1 2019 2019
dbSNP: rs10770141
rs10770141
TH ; MIR4686
2 1.000 0.120 11 2172610 upstream gene variant A/C;G snv 0.700 1.000 1 2007 2007
dbSNP: rs10774654
rs10774654 		1 1.000 0.120 12 112525756 intergenic variant A/G snv 0.20 0.700 1.000 1 2008 2008
dbSNP: rs10786436
rs10786436
HPSE2
1 1.000 0.120 10 98540425 intron variant C/T snv 0.40 0.800 1.000 1 2011 2011
dbSNP: rs10807113
rs10807113 		1 1.000 0.120 6 32754409 upstream gene variant C/A;G snv 0.700 1.000 1 2007 2007
dbSNP: rs10810632
rs10810632
BNC2
1 1.000 0.120 9 16789026 intron variant C/T snv 0.85 0.700 1.000 1 2010 2010
dbSNP: rs10850053
rs10850053 		1 1.000 0.120 12 112539973 regulatory region variant T/C snv 0.19 0.700 1.000 1 2008 2008
dbSNP: rs10914542
rs10914542
LCK
2 0.925 0.120 1 32262639 intron variant C/G snv 0.15 0.010 1.000 1 2019 2019
dbSNP: rs11052552
rs11052552
LINC02390
1 1.000 0.120 12 9703362 upstream gene variant T/G snv 0.42 0.800 1.000 1 2007 2007
dbSNP: rs11074932
rs11074932
CIITA ; LOC105371080
1 1.000 0.120 16 10874479 intron variant T/A;C snv 0.010 1.000 1 2012 2012
dbSNP: rs11160219
rs11160219 		1 1.000 0.120 14 94869154 regulatory region variant A/G snv 0.75 0.700 1.000 1 2010 2010
dbSNP: rs11170445
rs11170445 		1 1.000 0.120 12 53151908 upstream gene variant C/T snv 0.33 0.700 1.000 1 2019 2019
dbSNP: rs11170466
rs11170466
ITGB7 ; ZNF740
1 1.000 0.120 12 53192075 3 prime UTR variant C/T snv 5.8E-02 0.010 1.000 1 2014 2014
dbSNP: rs11203202
rs11203202
UBASH3A
1 1.000 0.120 21 42405248 intron variant C/G;T snv 0.700 1.000 1 2015 2015
dbSNP: rs11258747
rs11258747
PRKCQ
1 1.000 0.120 10 6430929 missense variant G/C;T snv 4.0E-06; 0.17 0.800 1.000 1 2009 2009
dbSNP: rs1131568
rs1131568
TNFSF10
2 1.000 0.120 3 172505900 3 prime UTR variant T/C snv 0.70 0.010 1.000 1 2018 2018
dbSNP: rs1136545
rs1136545
RNASEH1 ; RNASEH1-AS1
1 1.000 0.120 2 3558251 missense variant G/A;C snv 4.9E-06 0.010 1.000 1 2018 2018
dbSNP: rs11543947
rs11543947
PSMB5
1 1.000 0.120 14 23034812 missense variant G/A snv 6.6E-02 5.9E-02 0.010 1.000 1 2016 2016
dbSNP: rs11575248
rs11575248
STAT2
2 1.000 0.120 12 56342206 3 prime UTR variant G/T snv 4.5E-02 0.010 1.000 1 2016 2016
dbSNP: rs11624318
rs11624318 		1 1.000 0.120 14 94839675 intergenic variant C/A snv 0.15 0.700 1.000 1 2010 2010
dbSNP: rs11725853
rs11725853
GLRA3
1 1.000 0.120 4 174721548 intron variant G/A;C snv 0.700 1.000 1 2014 2014
dbSNP: rs11954020
rs11954020 		1 1.000 0.120 5 35883149 downstream gene variant C/G;T snv 0.700 1.000 1 2015 2015
dbSNP: rs1217385
rs1217385
AP4B1-AS1
1 1.000 0.120 1 113875583 intron variant A/C snv 0.58 0.010 1.000 1 2014 2014