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: rs7089424
rs7089424
ARID5B
10 0.752 0.200 10 61992400 intron variant T/G snv 0.32 0.800 1.000 2 2009 2018
dbSNP: rs11155133
rs11155133
LOC102723724
2 0.925 0.200 6 140848688 intron variant A/G snv 8.5E-02 0.800 1.000 1 2009 2009
dbSNP: rs1569175
rs1569175 		1 1.000 0.120 2 200157231 intergenic variant T/C snv 0.88 0.700 1.000 1 2009 2009
dbSNP: rs1695
rs1695
GSTP1
188 0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 0.010 1.000 1 2009 2009
dbSNP: rs17007695
rs17007695 		4 0.851 0.120 4 141788570 intergenic variant T/C snv 7.7E-02 0.700 1.000 1 2009 2009
dbSNP: rs2089222
rs2089222
MAP1LC3B2
2 0.925 0.200 12 116564853 intron variant G/A snv 0.12 0.800 1.000 1 2009 2009
dbSNP: rs2191566
rs2191566
ZNF230
2 0.925 0.200 19 44007237 intron variant G/T snv 0.62 0.800 1.000 1 2009 2009
dbSNP: rs2242041
rs2242041
DDC ; FIGNL1
2 0.925 0.120 7 50461751 intron variant C/G snv 7.7E-02 0.700 1.000 1 2009 2009
dbSNP: rs359312
rs359312
ST8SIA6
1 1.000 0.120 10 17346144 intron variant C/T snv 3.6E-02 0.700 1.000 1 2009 2009
dbSNP: rs1966862
rs1966862
ARHGAP24
8 0.790 0.120 4 85766908 intron variant A/G snv 0.14 0.010 1.000 1 2010 2010
dbSNP: rs3731217
rs3731217
CDKN2A
10 0.763 0.320 9 21984662 intron variant A/C;T snv 0.010 1.000 1 2010 2010
dbSNP: rs3794845
rs3794845
MBP
3 0.882 0.120 18 77002561 intron variant G/C snv 0.12 0.010 1.000 1 2010 2010
dbSNP: rs77375493
rs77375493
JAK2 ; INSL6
187 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.010 1.000 1 2010 2010
dbSNP: rs78380171
rs78380171
LOC101927518
2 0.925 0.120 3 86720838 intergenic variant A/G snv 6.6E-03 0.010 1.000 1 2010 2010
dbSNP: rs1057519753
rs1057519753
JAK1
9 0.763 0.120 1 64846664 missense variant C/A snv 0.010 1.000 1 2011 2011
dbSNP: rs2167364
rs2167364
DDC ; FIGNL1
1 1.000 0.120 7 50498129 intron variant T/C snv 0.30 0.800 1.000 2 2012 2013
dbSNP: rs17079534
rs17079534 		1 1.000 0.120 3 39805581 upstream gene variant G/A;C snv 0.800 1.000 1 2012 2012
dbSNP: rs17505102
rs17505102
TP63
1 1.000 0.120 3 189683987 intron variant G/C snv 9.7E-02 0.800 1.000 1 2012 2012
dbSNP: rs1945213
rs1945213 		1 1.000 0.120 11 56408195 upstream gene variant C/G;T snv 0.800 1.000 1 2012 2012
dbSNP: rs207954
rs207954
SLCO3A1
1 1.000 0.120 15 92114143 intron variant T/A;C;G snv 0.800 1.000 1 2012 2012
dbSNP: rs343604
rs343604
LOC107985174
1 1.000 0.120 1 110716148 intergenic variant T/A;C snv 0.700 1.000 1 2012 2012
dbSNP: rs3942852
rs3942852
PTPRJ
1 1.000 0.120 11 48093537 intron variant C/T snv 0.69 0.800 1.000 1 2012 2012
dbSNP: rs397507520
rs397507520
PTPN11
39 0.658 0.520 12 112453279 missense variant G/C;T snv 0.010 1.000 1 2012 2012
dbSNP: rs7142143
rs7142143
PYGL
1 1.000 0.120 14 50936813 intron variant T/C snv 2.8E-02 0.800 1.000 1 2012 2012
dbSNP: rs7156960
rs7156960
GPATCH2L ; LOC105370575
1 1.000 0.120 14 76237008 intron variant C/G;T snv 0.800 1.000 1 2012 2012