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: rs2201862
rs2201862 		3 0.925 0.080 3 168930251 downstream gene variant T/C snv 0.63 0.020 1.000 2 2017 2018
dbSNP: rs4858647
rs4858647 		2 0.925 0.080 3 24749884 intron variant C/A;G;T snv 0.010 1.000 1 2018 2018
dbSNP: rs1200469268
rs1200469268
ABCA1
2 0.925 0.080 9 104830968 missense variant C/A snv 7.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs796065343
rs796065343
CSF3R
12 0.776 0.080 1 36467833 missense variant G/A snv 0.010 1.000 1 2013 2013
dbSNP: rs562533120
rs562533120
HBS1L
3 0.882 0.080 6 134966397 missense variant A/C snv 8.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs1800562
rs1800562
HFE ; LOC108783645
262 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.010 1.000 1 2009 2009
dbSNP: rs104894230
rs104894230
HRAS ; LRRC56
73 0.564 0.600 11 534288 missense variant C/A;G;T snv 0.010 1.000 1 2017 2017
dbSNP: rs727503094
rs727503094
HRAS ; LRRC56
41 0.633 0.440 11 534287 missense variant GC/AG;AT;TA;TT mnv 0.010 1.000 1 2017 2017
dbSNP: rs121913502
rs121913502
IDH2
19 0.708 0.320 15 90088702 missense variant C/A;T snv 3.2E-05 0.010 1.000 1 2015 2015
dbSNP: rs77375493
rs77375493
JAK2 ; INSL6
187 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.100 0.974 269 2005 2020
dbSNP: rs12343867
rs12343867
JAK2 ; INSL6
9 0.790 0.200 9 5074189 intron variant T/C snv 0.25 0.050 1.000 5 2012 2017
dbSNP: rs10974944
rs10974944
JAK2 ; INSL6
4 0.882 0.160 9 5070831 intron variant C/G snv 0.25 0.040 1.000 4 2009 2014
dbSNP: rs12342421
rs12342421
JAK2 ; INSL6
5 0.851 0.080 9 5065750 intron variant G/C snv 0.23 0.020 1.000 2 2013 2014
dbSNP: rs1057519721
rs1057519721
JAK2 ; INSL6
4 0.882 0.120 9 5078360 missense variant A/G snv 0.010 1.000 1 2012 2012
dbSNP: rs1057520016
rs1057520016
JAK2 ; INSL6
5 0.851 0.080 9 5089726 missense variant C/A;T snv 0.010 1.000 1 2011 2011
dbSNP: rs121912473
rs121912473
JAK2 ; INSL6
3 0.925 0.080 9 5070026 missense variant AA/TT mnv 0.010 1.000 1 2011 2011
dbSNP: rs12339666
rs12339666
JAK2 ; INSL6
3 0.925 0.080 9 5063296 intron variant G/T snv 0.34 0.010 1.000 1 2017 2017
dbSNP: rs12340895
rs12340895
JAK2 ; INSL6
1 1.000 0.080 9 5076691 intron variant C/A;G snv 0.010 1.000 1 2012 2012
dbSNP: rs4495487
rs4495487
JAK2 ; INSL6
3 0.925 0.080 9 5072798 intron variant T/C snv 0.23 0.010 1.000 1 2012 2012
dbSNP: rs59384377
rs59384377
JAK2 ; INSL6
1 1.000 0.080 9 5005034 intron variant A/T snv 0.26 0.010 1.000 1 2016 2016
dbSNP: rs764634461
rs764634461
JAK2 ; INSL6
1 1.000 0.080 9 5072516 missense variant T/G snv 1.2E-05 2.8E-05 0.010 1.000 1 2018 2018
dbSNP: rs121913504
rs121913504
JAK3
3 0.882 0.080 19 17837200 missense variant G/A snv 0.700 1.000 4 2010 2014
dbSNP: rs201478192
rs201478192
KIDINS220
12 0.790 0.200 2 8731667 missense variant C/A snv 2.4E-04 2.6E-04 0.070 1.000 7 2006 2019
dbSNP: rs121913520
rs121913520
KIT
4 1.000 0.080 4 54727443 missense variant G/A snv 0.700 1.000 2 2009 2014
dbSNP: rs104894365
rs104894365
KRAS
9 0.827 0.320 12 25245345 missense variant C/T snv 0.010 1.000 1 2016 2016