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: rs4532315
rs4532315 		1 1.000 0.080 5 54768502 intergenic variant T/G snv 0.99 0.700 1.000 1 2019 2019
dbSNP: rs7588550
rs7588550
ERBB4
4 0.851 0.160 2 212304043 intron variant G/A snv 0.96 0.020 1.000 2 2012 2013
dbSNP: rs12717111
rs12717111
CNDP2
1 1.000 0.080 18 74522015 3 prime UTR variant C/A snv 0.95 0.010 1.000 1 2009 2009
dbSNP: rs890334
rs890334
CNDP2
1 1.000 0.080 18 74521136 3 prime UTR variant A/G snv 0.95 0.010 1.000 1 2009 2009
dbSNP: rs846910
rs846910
HSD11B1 ; HSD11B1-AS1
6 0.882 0.160 1 209701909 intron variant A/G snv 0.95 0.010 1.000 1 2017 2017
dbSNP: rs2680830
rs2680830
VSNL1
2 1.000 0.080 2 17596817 intron variant A/G;T snv 0.94 0.700 1.000 1 2017 2017
dbSNP: rs10466210
rs10466210
GRK5 ; GRK5-IT1
1 1.000 0.080 10 119210869 intron variant A/G snv 0.94 0.010 1.000 1 2018 2018
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
121 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.730 1.000 4 2008 2018
dbSNP: rs6434742
rs6434742
LOC105376755
1 1.000 0.080 2 195172179 intergenic variant A/G snv 0.93 0.700 1.000 1 2007 2007
dbSNP: rs2780293
rs2780293 		1 1.000 0.080 1 56439400 intron variant A/G snv 0.92 0.700 1.000 1 2013 2013
dbSNP: rs296766
rs296766
AQP2 ; LOC101927318
1 1.000 0.080 12 49957170 3 prime UTR variant T/C snv 0.92 0.010 1.000 1 2011 2011
dbSNP: rs1423096
rs1423096 		3 0.925 0.080 19 7674291 upstream gene variant T/C snv 0.92 0.010 1.000 1 2014 2014
dbSNP: rs11410487
rs11410487
ITGA1 ; PELO
1 1.000 0.080 5 52798410 intron variant -/T delins 0.91 0.700 1.000 1 2019 2019
dbSNP: rs662799
rs662799
APOA5
33 0.689 0.480 11 116792991 upstream gene variant G/A snv 0.90 0.020 1.000 2 2011 2014
dbSNP: rs10483032
rs10483032
CBR3 ; CBR3-AS1
1 1.000 0.080 21 36140267 intron variant A/G snv 0.90 0.010 1.000 1 2012 2012
dbSNP: rs7921488
rs7921488
CUBN
1 1.000 0.080 10 17127078 intron variant A/G snv 0.90 0.700 1.000 1 2014 2014
dbSNP: rs2065929
rs2065929
CHIAP3 ; LOC105378904
1 1.000 0.080 1 111366982 intron variant G/A snv 0.89 0.010 1.000 1 2018 2018
dbSNP: rs316019
rs316019
SLC22A2
8 0.790 0.360 6 160249250 missense variant A/C snv 0.90 0.89 0.020 1.000 2 2010 2015
dbSNP: rs6721961
rs6721961
NFE2L2
24 0.672 0.520 2 177265309 intron variant T/C;G snv 0.89 0.010 1.000 1 2015 2015
dbSNP: rs2272592
rs2272592
CLIC1 ; DDAH2
2 1.000 0.080 6 31730575 5 prime UTR variant T/C snv 0.88 0.010 1.000 1 2012 2012
dbSNP: rs4740283
rs4740283 		1 1.000 0.080 9 131572909 downstream gene variant G/A snv 0.87 0.010 1.000 1 2008 2008
dbSNP: rs10761745
rs10761745
JMJD1C
3 0.882 0.240 10 63341311 intron variant G/C snv 0.87 0.010 1.000 1 2017 2017
dbSNP: rs2134223
rs2134223
CASR
1 1.000 0.080 3 122238106 intron variant G/A snv 0.86 0.700 1.000 1 2019 2019
dbSNP: rs2970847
rs2970847
PPARGC1A
3 0.882 0.200 4 23814301 synonymous variant T/C snv 0.84 0.86 0.040 1.000 4 2007 2018
dbSNP: rs3731201
rs3731201
CDKN2A
2 1.000 0.080 9 21988897 intron variant C/T snv 0.86 0.010 1.000 1 2010 2010