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: 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: rs1045642
rs1045642
ABCB1
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.030 1.000 3 2003 2012
dbSNP: rs121913459
rs121913459
ABL1
25 0.672 0.160 9 130872896 missense variant C/T snv 0.020 1.000 2 2007 2012
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
dbSNP: rs920590
rs920590 		3 1.000 0.120 8 19793650 regulatory region variant T/C snv 0.39 0.700 1.000 1 2012 2012
dbSNP: rs936094
rs936094
RXFP1
1 1.000 0.120 4 158523162 intron variant T/A;C;G snv 0.700 1.000 1 2012 2012
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: rs10261922
rs10261922 		1 1.000 0.120 7 50414314 intergenic variant C/A;G;T snv 0.700 1.000 1 2013 2013
dbSNP: rs1037351
rs1037351
DDC ; FIGNL1
1 1.000 0.120 7 50497706 intron variant T/C snv 0.30 0.700 1.000 1 2013 2013
dbSNP: rs10821938
rs10821938
ARID5B
2 0.925 0.120 10 61965014 intron variant A/C snv 0.56 0.700 1.000 1 2013 2013
dbSNP: rs10899736
rs10899736
DDC ; FIGNL1
1 1.000 0.120 7 50479227 intron variant G/A;C snv 0.700 1.000 1 2013 2013
dbSNP: rs11013046
rs11013046
PIP4K2A
1 1.000 0.120 10 22551654 intron variant C/T snv 0.55 0.700 1.000 1 2013 2013
dbSNP: rs11575387
rs11575387
DDC ; FIGNL1
1 1.000 0.120 7 50499737 intron variant T/A;G snv 0.700 1.000 1 2013 2013