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: rs1102705
rs1102705 		3 0.925 0.080 1 172731728 intergenic variant G/A snv 0.93 0.700 1.000 1 2019 2019
dbSNP: rs11102930
rs11102930
NGF ; NGF-AS1
2 0.925 0.160 1 115338434 intron variant G/A snv 0.54 0.010 1.000 1 2012 2012
dbSNP: rs11121240
rs11121240
RERE
1 1.000 0.080 1 8834298 intron variant A/T snv 0.51 0.700 1.000 1 2019 2019
dbSNP: rs11240285
rs11240285 		1 1.000 0.080 1 204798177 intergenic variant G/A;C snv 0.700 1.000 1 2015 2015
dbSNP: rs1131498
rs1131498
SELL ; C1orf112
13 0.732 0.360 1 169707345 missense variant A/G snv 0.21 0.22 0.010 1.000 1 2015 2015
dbSNP: rs1136410
rs1136410
PARP1
70 0.559 0.760 1 226367601 missense variant A/G snv 0.21 0.15 0.010 1.000 1 2009 2009
dbSNP: rs1136774
rs1136774
CTSS
1 1.000 0.080 1 150765721 5 prime UTR variant C/T snv 0.41 0.010 1.000 1 2016 2016
dbSNP: rs1137100
rs1137100
LEPR
39 0.627 0.640 1 65570758 missense variant A/G snv 0.30 0.25 0.010 1.000 1 2009 2009
dbSNP: rs1137101
rs1137101
LEPR
77 0.554 0.760 1 65592830 missense variant A/G snv 0.51 0.50 0.010 1.000 1 2009 2009
dbSNP: rs114190122
rs114190122
CLSTN1
1 1.000 0.080 1 9819291 intron variant A/G snv 8.6E-03 0.700 1.000 1 2015 2015
dbSNP: rs11465804
rs11465804
IL23R
10 0.752 0.320 1 67236843 intron variant T/G snv 4.4E-02 5.4E-02 0.700 1.000 1 2011 2011
dbSNP: rs115045402
rs115045402 		1 1.000 0.080 1 152057072 intergenic variant G/A snv 1.7E-02 0.700 1.000 1 2019 2019
dbSNP: rs115288876
rs115288876
LOC105371442
3 0.925 0.120 1 152027641 intron variant G/A snv 2.5E-02 0.700 1.000 1 2018 2018
dbSNP: rs115813648
rs115813648
LINC01527
1 1.000 0.080 1 152949110 3 prime UTR variant T/C snv 1.1E-02 0.700 1.000 1 2019 2019
dbSNP: rs11584340
rs11584340
FLG ; FLG-AS1
5 0.827 0.200 1 152313454 missense variant G/A snv 0.27 0.19 0.010 1.000 1 2015 2015
dbSNP: rs11584383
rs11584383
MROH3P
5 0.827 0.200 1 200966738 downstream gene variant T/C snv 0.24 0.700 1.000 1 2011 2011
dbSNP: rs1188722
rs1188722
OBSCN
2 0.925 0.240 1 228276575 missense variant T/C snv 0.68 0.70 0.010 1.000 1 2012 2012
dbSNP: rs12023876
rs12023876
ADORA1
2 0.925 0.080 1 203124073 intron variant G/A;T snv 0.700 1.000 1 2019 2019
dbSNP: rs1205
rs1205
CRP
46 0.602 0.680 1 159712443 3 prime UTR variant C/T snv 0.30 0.010 1.000 1 2011 2011
dbSNP: rs12122228
rs12122228
NFIA ; LOC105378764
2 0.925 0.160 1 60890848 intron variant G/A;T snv 0.010 1.000 1 2014 2014
dbSNP: rs12141494
rs12141494
CHI3L1
1 1.000 0.080 1 203182297 intron variant G/A snv 0.41 0.010 1.000 1 2015 2015
dbSNP: rs12143327
rs12143327 		1 1.000 0.080 1 112068273 intergenic variant G/A snv 6.7E-02 0.700 1.000 1 2015 2015
dbSNP: rs1214598
rs1214598
CD247 ; LOC101928512
3 0.925 0.120 1 167457187 non coding transcript exon variant G/A;C;T snv 0.700 1.000 1 2018 2018
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs12568266
rs12568266 		1 1.000 0.080 1 4133491 intergenic variant G/A;T snv 0.12 0.700 1.000 1 2015 2015