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: 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: rs189889864
rs189889864 		2 0.925 0.040 9 104634643 downstream gene variant G/A snv 2.8E-03 0.700 1.000 1 2017 2017
dbSNP: rs190543502
rs190543502
TP53BP1
2 0.925 0.040 15 43464986 intron variant T/A;C snv 0.700 1.000 1 2017 2017
dbSNP: rs192427471
rs192427471 		2 0.925 0.040 4 124644124 intergenic variant C/T snv 2.4E-03 0.700 1.000 1 2017 2017
dbSNP: rs201394051
rs201394051 		2 0.925 0.040 5 117697919 intergenic variant TA/-;TATA;TATATA delins 0.700 1.000 1 2017 2017
dbSNP: rs2733201
rs2733201
FRMD5
2 0.925 0.040 15 44116203 intron variant T/A;C snv 0.700 1.000 1 2017 2017
dbSNP: rs3087459
rs3087459
EDN1
2 0.925 0.160 6 12289406 upstream gene variant A/C snv 0.20 0.010 1.000 1 2014 2014
dbSNP: rs35610040
rs35610040
CST3
2 1.000 0.040 20 23635832 intron variant T/C snv 0.19 0.700 1.000 1 2014 2014
dbSNP: rs3784929
rs3784929
KARS1
2 0.925 0.160 16 75643129 intron variant A/G snv 0.30 0.010 < 0.001 1 2016 2016
dbSNP: rs4357117
rs4357117
LOC107986540
2 0.925 0.040 6 66873865 intergenic variant G/T snv 1.7E-02 0.700 1.000 1 2017 2017
dbSNP: rs559110055
rs559110055
ABCA1
2 0.925 0.160 9 104840491 missense variant A/G snv 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs57578064
rs57578064
TOMM5
2 0.925 0.040 9 37590253 intron variant G/A snv 1.9E-02 0.700 1.000 1 2017 2017
dbSNP: rs62568141
rs62568141 		2 0.925 0.040 9 77012344 regulatory region variant C/T snv 2.4E-02 0.700 1.000 1 2017 2017
dbSNP: rs697829
rs697829
KCNE5
2 0.925 0.160 X 109623948 3 prime UTR variant G/A snv 0.010 1.000 1 2012 2012
dbSNP: rs8053257
rs8053257
KARS1
2 0.925 0.120 16 75640790 intron variant G/A snv 0.18 0.010 < 0.001 1 2016 2016
dbSNP: rs9295128
rs9295128 		2 0.925 0.040 6 160330499 intergenic variant G/T snv 1.1E-02 0.700 1.000 1 2017 2017
dbSNP: rs1967309
rs1967309
ADCY9
3 0.925 0.080 16 4015582 non coding transcript exon variant A/G snv 0.51 0.710 1.000 2 2015 2017
dbSNP: rs10757279
rs10757279
CDKN2B-AS1
3 0.925 0.040 9 22124631 intron variant A/G snv 0.40 0.010 1.000 1 2013 2013
dbSNP: rs1129293
rs1129293
PIK3CG
3 0.882 0.040 7 106872566 synonymous variant C/T snv 0.32 0.26 0.010 1.000 1 2017 2017
dbSNP: rs117714106
rs117714106 		3 0.882 0.080 14 84338144 intergenic variant C/T snv 9.1E-03 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
dbSNP: rs181937009
rs181937009
LOC100507477 ; LOC107986652
3 0.925 0.040 6 140064258 intron variant A/G snv 0.23 0.700 1.000 1 2017 2017
dbSNP: rs201052613
rs201052613 		3 0.882 0.080 1 173026503 intron variant T/-;TT delins 9.4E-03 0.700 1.000 1 2017 2017
dbSNP: rs2235312
rs2235312
APLN
3 0.882 0.160 X 129653118 intron variant A/G snv 0.31 0.010 1.000 1 2016 2016
dbSNP: rs3737224
rs3737224
PEAR1
3 0.882 0.160 1 156909788 synonymous variant C/T snv 0.14 0.13 0.010 1.000 1 2018 2018