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: rs1354034
rs1354034
ARHGEF3
4 3 56815721 intron variant T/C snv 0.49 0.800 1.000 8 2011 2019
dbSNP: rs210134
rs210134
BAK1 ; GGNBP1
3 1.000 0.120 6 33572432 intron variant A/G snv 0.72 0.800 1.000 6 2011 2019
dbSNP: rs385893
rs385893 		9 0.925 0.080 9 4763176 downstream gene variant T/C snv 0.44 0.700 1.000 5 2009 2019
dbSNP: rs9399137
rs9399137
HBS1L
13 0.851 0.320 6 135097880 intron variant T/C snv 0.20 0.800 1.000 5 2009 2019
dbSNP: rs11082304
rs11082304
CABLES1
6 18 23141009 intron variant G/C;T snv 0.800 1.000 4 2011 2019
dbSNP: rs6993770
rs6993770
ZFPM2 ; ZFPM2-AS1
9 0.925 0.080 8 105569300 intron variant A/T snv 0.31 0.800 1.000 4 2011 2019
dbSNP: rs8109288
rs8109288
TPM4
2 19 16074749 non coding transcript exon variant G/A snv 3.9E-02 0.800 1.000 4 2011 2019
dbSNP: rs10761731
rs10761731
JMJD1C
6 10 63267850 intron variant A/T snv 0.38 0.800 1.000 3 2011 2019
dbSNP: rs1260326
rs1260326
GCKR
81 0.645 0.600 2 27508073 missense variant T/C;G snv 0.63; 4.0E-06 0.68 0.800 1.000 3 2011 2018
dbSNP: rs3184504
rs3184504
ATXN2 ; SH2B3
92 0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67 0.800 1.000 3 2011 2016
dbSNP: rs4895441
rs4895441
LOC105378010
10 0.925 0.080 6 135105435 upstream gene variant A/G snv 0.21 0.800 1.000 3 2014 2019
dbSNP: rs5745568
rs5745568
BAK1 ; GGNBP1
4 0.882 0.080 6 33580617 intron variant G/T snv 0.19 0.700 1.000 3 2010 2019
dbSNP: rs6141
rs6141
THPO
4 0.925 0.080 3 184372478 3 prime UTR variant C/G;T snv 4.0E-06; 0.56 0.800 1.000 3 2010 2018
dbSNP: rs7896518
rs7896518
JMJD1C
5 10 63344740 intron variant A/G snv 0.38 0.700 1.000 3 2012 2019
dbSNP: rs9494145
rs9494145 		11 0.925 0.080 6 135111414 intergenic variant T/A;C snv 0.700 1.000 3 2012 2019
dbSNP: rs11602954
rs11602954
BET1L
2 11 202856 intron variant G/A snv 0.17 0.800 1.000 2 2014 2019
dbSNP: rs117672662
rs117672662
ACTN1
3 14 68958750 intron variant T/C snv 7.4E-03 0.700 1.000 2 2016 2019
dbSNP: rs13236689
rs13236689
CD36
2 7 80606698 intron variant T/G snv 0.44 0.700 1.000 2 2012 2019
dbSNP: rs150813342
rs150813342
GFI1B
9 9 132989126 synonymous variant C/T snv 4.1E-03 4.1E-03 0.700 1.000 2 2016 2016
dbSNP: rs2068888
rs2068888 		5 10 93079885 downstream gene variant G/A snv 0.42 0.700 1.000 2 2016 2018
dbSNP: rs2736100
rs2736100
TERT
83 0.550 0.880 5 1286401 3 prime UTR variant C/A snv 0.52 0.700 1.000 2 2016 2018
dbSNP: rs34038797
rs34038797
NINJ2 ; NINJ2-AS1
2 12 630843 intron variant C/G snv 0.42 0.700 1.000 2 2016 2018
dbSNP: rs342275
rs342275
CTB-30L5.1
1 7 106718770 intron variant C/T snv 0.33 0.800 1.000 2 2011 2019
dbSNP: rs342293
rs342293
CTB-30L5.1
7 0.882 0.040 7 106731773 intron variant C/G snv 0.42 0.700 1.000 2 2012 2019
dbSNP: rs3731211
rs3731211
CDKN2A
7 9 21986848 intron variant T/A snv 0.74 0.800 1.000 2 2011 2016