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: rs8192917
rs8192917
GZMB ; LOC107984667
3 0.925 0.040 14 24632954 missense variant C/T snv 0.76 0.72 0.810 1.000 4 2010 2018
dbSNP: rs9468925
rs9468925
HLA-B
5 0.851 0.040 6 31291060 intron variant G/A snv 0.44 0.820 1.000 3 2010 2012
dbSNP: rs11021232
rs11021232 		1 1.000 0.040 11 95587644 intron variant T/C snv 0.14 0.800 1.000 2 2012 2016
dbSNP: rs11966200
rs11966200
CYP21A2 ; SLC44A4
4 0.851 0.040 6 31869289 intron variant C/T snv 2.9E-02 4.5E-02 0.810 0.500 2 2010 2013
dbSNP: rs12206499
rs12206499
HLA-A
1 1.000 0.040 6 29969350 downstream gene variant A/G snv 0.27 0.700 1.000 2 2011 2012
dbSNP: rs13076312
rs13076312
LPP
2 1.000 0.040 3 188371466 intron variant C/T snv 0.44 0.800 1.000 2 2010 2016
dbSNP: rs13208776
rs13208776
SMOC2
3 0.882 0.040 6 168540944 intron variant G/A;C snv 0.810 0.500 2 2010 2011
dbSNP: rs2456973
rs2456973
IKZF4 ; LOC105369780 ; LOC105369781
4 0.925 0.040 12 56023144 intron variant A/C;G snv 0.810 1.000 2 2012 2015
dbSNP: rs3213758
rs3213758
RPGRIP1L
3 0.925 0.040 16 53605526 missense variant C/T snv 7.3E-02 4.7E-02 0.820 1.000 2 2013 2015
dbSNP: rs4908760
rs4908760
RERE
1 1.000 0.040 1 8466082 intron variant G/A snv 0.68 0.800 1.000 2 2010 2012
dbSNP: rs59374417
rs59374417 		2 0.925 0.040 3 119569567 intergenic variant A/C;T snv 0.810 1.000 2 2012 2015
dbSNP: rs10155912
rs10155912
PARP12
1 1.000 0.040 7 140058921 intron variant A/C snv 0.48 0.700 1.000 1 2016 2016
dbSNP: rs10200159
rs10200159
PPP4R3B ; LOC107985885
1 1.000 0.040 2 55617974 non coding transcript exon variant T/C snv 0.14 0.700 1.000 1 2016 2016
dbSNP: rs10250629
rs10250629
SPATA48
1 1.000 0.040 7 50151757 intron variant T/C snv 0.41 0.700 1.000 1 2016 2016
dbSNP: rs1031034
rs1031034
PPP3CA
1 1.000 0.040 4 101302229 intron variant C/A snv 0.29 0.700 1.000 1 2016 2016
dbSNP: rs1043101
rs1043101
SLC1A2
1 1.000 0.040 11 35253282 3 prime UTR variant A/G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs10503019
rs10503019
ATP8B1
2 0.925 0.040 18 57787145 intron variant G/A snv 0.17 0.010 1.000 1 2015 2015
dbSNP: rs10768122
rs10768122
SLC1A2
1 1.000 0.040 11 35259305 3 prime UTR variant A/G snv 0.33 0.800 1.000 1 2012 2012
dbSNP: rs1079541
rs1079541 		1 1.000 0.040 6 30438979 intergenic variant C/A snv 0.17 0.700 1.000 1 2010 2010
dbSNP: rs10986311
rs10986311
NEK6
1 1.000 0.040 9 124309214 intron variant T/C snv 0.34 0.700 1.000 1 2016 2016
dbSNP: rs11079035
rs11079035
RAB5C
3 1.000 0.040 17 42136994 intron variant G/A snv 0.29 0.700 1.000 1 2016 2016
dbSNP: rs11575993
rs11575993
SOD2
2 0.925 0.040 6 159688219 missense variant G/A snv 0.010 1.000 1 2013 2013
dbSNP: rs11593576
rs11593576
ZMIZ1
2 0.925 0.040 10 79256139 intron variant C/T snv 0.29 0.800 1.000 1 2010 2010
dbSNP: rs11940117
rs11940117
CLNK
2 0.925 0.040 4 10725083 intergenic variant C/G;T snv 0.010 1.000 1 2015 2015
dbSNP: rs11964542
rs11964542
TRIM31 ; TRIM31-AS1
1 1.000 0.040 6 30103983 non coding transcript exon variant T/C snv 7.2E-02 0.700 1.000 1 2010 2010