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: rs1234314
rs1234314
TNFSF4
7 0.790 0.320 1 173208253 upstream gene variant C/A;G snv 0.010 1.000 1 2019 2019
dbSNP: rs1235324522
rs1235324522
F2R
1 1.000 0.040 5 76732662 missense variant C/T snv 4.0E-06 1.4E-05 0.010 1.000 1 2001 2001
dbSNP: rs12566888
rs12566888
PEAR1
7 0.807 0.280 1 156899255 intron variant G/T snv 0.26 0.010 1.000 1 2018 2018
dbSNP: rs1265538677
rs1265538677
CPB2 ; CPB2-AS1
10 0.790 0.200 13 46055808 synonymous variant A/G snv 4.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs1267969615
rs1267969615
ACE
100 0.532 0.760 17 63490960 missense variant T/C snv 4.0E-06 0.010 1.000 1 2005 2005
dbSNP: rs12696304
rs12696304 		10 0.776 0.320 3 169763483 downstream gene variant C/G snv 0.38 0.010 < 0.001 1 2016 2016
dbSNP: rs12740374
rs12740374
CELSR2
16 0.851 0.040 1 109274968 3 prime UTR variant G/T snv 0.22 0.700 1.000 1 2017 2017
dbSNP: rs12766939
rs12766939
CUBN
2 0.925 0.160 10 17031136 intron variant A/G snv 0.23 0.010 1.000 1 2020 2020
dbSNP: rs1333047
rs1333047
CDKN2B-AS1
9 0.790 0.240 9 22124505 intron variant A/T snv 0.63 0.010 1.000 1 2013 2013
dbSNP: rs1333049
rs1333049
CDKN2B-AS1
60 0.614 0.520 9 22125504 intron variant G/C snv 0.41 0.020 1.000 2 2013 2014
dbSNP: rs138741635
rs138741635
FHIT
2 0.925 0.040 3 60942161 intron variant T/A;G snv 0.700 1.000 1 2017 2017
dbSNP: rs140104968
rs140104968 		1 1.000 0.040 7 99946004 intron variant C/T snv 1.5E-02 0.700 1.000 1 2015 2015
dbSNP: rs140607780
rs140607780 		1 1.000 0.040 7 100505900 upstream gene variant G/A snv 1.0E-02 0.700 1.000 1 2015 2015
dbSNP: rs144610116
rs144610116
FAM114A1
2 0.925 0.040 4 38941227 intron variant T/C snv 8.6E-03 0.700 1.000 1 2017 2017
dbSNP: rs144972973
rs144972973 		2 0.925 0.040 15 44272494 intergenic variant A/G snv 1.8E-02 0.700 1.000 1 2017 2017
dbSNP: rs145044782
rs145044782
GLCCI1
2 0.925 0.040 7 7995866 intron variant G/A snv 2.9E-02 0.700 1.000 1 2017 2017
dbSNP: rs147204125
rs147204125
ACOT6
2 0.925 0.040 14 73609035 intron variant A/G snv 9.8E-03 0.700 1.000 1 2017 2017
dbSNP: rs147233090
rs147233090
CATSPER2P1
6 0.925 0.040 15 43735849 intron variant C/T snv 1.7E-02 0.700 1.000 1 2017 2017
dbSNP: rs147642358
rs147642358
ARPC1A
1 1.000 0.040 7 99335136 intron variant G/A;T snv 0.700 1.000 1 2015 2015
dbSNP: rs148121703
rs148121703
GABRB1
2 0.925 0.040 4 47371654 intron variant TGT/- delins 2.6E-03 0.700 1.000 1 2017 2017
dbSNP: rs149232047
rs149232047 		2 0.925 0.040 6 126276990 intergenic variant A/G snv 1.5E-04 0.700 1.000 1 2017 2017
dbSNP: rs151269874
rs151269874
TMEM231
2 0.925 0.040 16 75549741 intron variant C/T snv 6.2E-03 0.700 1.000 1 2017 2017
dbSNP: rs16985615
rs16985615
LOC107985383
2 1.000 0.040 20 23661790 intron variant T/A;C snv 0.700 1.000 1 2014 2014
dbSNP: rs16999497
rs16999497 		2 0.925 0.040 X 129601222 regulatory region variant T/C snv 7.8E-02 0.700 1.000 1 2017 2017
dbSNP: rs17398575
rs17398575 		3 0.882 0.040 7 106769006 intron variant G/A snv 0.20 0.010 1.000 1 2017 2017