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: rs342275
rs342275
CTB-30L5.1
1 7 106718770 intron variant C/T snv 0.33 0.800 1.000 2 2011 2019
dbSNP: rs409801
rs409801 		1 9 4744743 intron variant T/C snv 0.38 0.800 1.000 2 2011 2019
dbSNP: rs4148435
rs4148435
ABCC4
1 13 95247462 intron variant C/A snv 0.91 0.700 1.000 2 2016 2018
dbSNP: rs4326844
rs4326844
COPZ1
1 12 54342686 intron variant A/C;G snv 0.68 0.800 1.000 2 2013 2019
dbSNP: rs559972
rs559972
TAOK1
1 17 29487478 intron variant C/T snv 0.38 0.800 1.000 2 2011 2019
dbSNP: rs7342306
rs7342306
LOC105369623
1 12 6181927 intergenic variant G/A;T snv 0.33 0.800 1.000 2 2011 2016
dbSNP: rs78565404
rs78565404
THPO
1 3 184372454 3 prime UTR variant C/T snv 6.4E-02 0.700 1.000 2 2016 2016
dbSNP: rs9296095
rs9296095
BAK1 ; GGNBP1
1 6 33574746 intron variant T/C snv 0.25 0.700 1.000 2 2014 2019
dbSNP: rs1006409
rs1006409
FAR2 ; LOC100506606
1 12 29282742 non coding transcript exon variant A/G snv 0.51 0.700 1.000 1 2018 2018
dbSNP: rs10075570
rs10075570
RNF145
1 5 159172350 intron variant G/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs10132160
rs10132160
RCOR1
1 14 102591686 upstream gene variant A/G snv 0.80 0.700 1.000 1 2018 2018
dbSNP: rs10199109
rs10199109
LOC105373583
1 2 120236957 upstream gene variant G/T snv 0.75 0.700 1.000 1 2016 2016
dbSNP: rs1034564
rs1034564
ARVCF
1 22 19996490 intron variant C/T snv 0.24 0.700 1.000 1 2016 2016
dbSNP: rs1034566
rs1034566
ARVCF
1 22 19996754 intron variant C/G;T snv 0.800 1.000 1 2011 2011
dbSNP: rs10431427
rs10431427
MRPL42
1 12 93489363 intron variant C/T snv 0.37 0.700 1.000 1 2018 2018
dbSNP: rs10512472
rs10512472
SLFN14
1 17 35557785 missense variant T/C snv 0.21 0.19 0.800 1.000 1 2011 2011
dbSNP: rs10661645
rs10661645
NAA25
1 12 112086916 intron variant -/GAG;GGAG delins 0.95 0.700 1.000 1 2016 2016
dbSNP: rs10757287
rs10757287 		1 9 22143571 regulatory region variant A/T snv 0.22 0.700 1.000 1 2018 2018
dbSNP: rs10769960
rs10769960
DENND2B ; LOC102724784
1 11 8797456 intron variant T/C snv 0.34 0.700 1.000 1 2016 2016
dbSNP: rs10811664
rs10811664 		1 9 22142908 regulatory region variant G/A snv 0.21 0.700 1.000 1 2016 2016
dbSNP: rs10893909
rs10893909
FLI1 ; SENCR
1 11 128695139 intron variant C/T snv 0.18 0.700 1.000 1 2016 2016
dbSNP: rs10919585
rs10919585
MIR181A1HG
1 1 198806192 intron variant T/C snv 0.52 0.700 1.000 1 2018 2018
dbSNP: rs10984466
rs10984466
HEMGN
1 9 97945710 upstream gene variant A/G snv 0.31 0.700 1.000 1 2016 2016
dbSNP: rs11121845
rs11121845
PLOD1
1 1 11968598 intron variant C/T snv 0.50 0.700 1.000 1 2016 2016
dbSNP: rs111350029
rs111350029
PIEZO1 ; LOC100289580
1 16 88730362 intron variant -/AGGCGG delins 0.700 1.000 1 2016 2016