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: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.100 0.917 12 2003 2019
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.070 0.857 7 2012 2019
dbSNP: rs121913250
rs121913250
NRAS
25 0.683 0.440 1 114716127 missense variant C/A;G;T snv 0.700 1.000 2 2012 2014
dbSNP: rs1057519776
rs1057519776
CSF3R
1 1.000 0.080 1 36467843 missense variant T/C snv 0.700 1.000 1 2013 2013
dbSNP: rs121913615
rs121913615
MPL
25 0.683 0.240 1 43349338 missense variant G/C;T snv 8.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs1801133
rs1801133
MTHFR
174 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 0.010 1.000 1 2014 2014
dbSNP: rs375912312
rs375912312
EPHA8
1 1.000 0.080 1 22588916 missense variant C/T snv 7.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs532354124
rs532354124
ASPM
1 1.000 0.080 1 197103274 missense variant T/C;G snv 0.010 1.000 1 2013 2013
dbSNP: rs636832
rs636832
AGO1
8 0.790 0.400 1 35897874 intron variant G/A snv 0.23 0.010 1.000 1 2016 2016
dbSNP: rs796065343
rs796065343
CSF3R
12 0.776 0.080 1 36467833 missense variant G/A snv 0.700 1.000 1 2013 2013
dbSNP: rs1052133
rs1052133
OGG1 ; CAMK1
147 0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22 0.010 1.000 1 2019 2019
dbSNP: rs1060500091
rs1060500091
GATA2
4 0.882 0.120 3 128481887 missense variant A/C snv 0.010 1.000 1 2008 2008
dbSNP: rs1343187782
rs1343187782
GOLGA4
1 1.000 0.080 3 37298923 missense variant T/C snv 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs754541813
rs754541813
FLNB
1 1.000 0.080 3 58123401 synonymous variant C/T snv 6.8E-05 2.8E-05 0.010 1.000 1 2015 2015
dbSNP: rs748843032
rs748843032
MTTP
8 0.807 0.160 4 99594840 missense variant T/C snv 4.0E-06 0.100 0.917 12 2006 2018
dbSNP: rs2231142
rs2231142
ABCG2
56 0.583 0.680 4 88131171 missense variant G/C;T snv 4.0E-06; 0.12 0.040 1.000 4 2013 2018
dbSNP: rs121908587
rs121908587
PDGFRA
6 0.827 0.120 4 54278380 missense variant C/T snv 0.010 1.000 1 2012 2012
dbSNP: rs121913505
rs121913505
KIT
2 0.925 0.080 4 54695598 missense variant G/A snv 2.0E-05 0.010 1.000 1 1997 1997
dbSNP: rs121913507
rs121913507
KIT
49 0.614 0.400 4 54733155 missense variant A/T snv 0.010 < 0.001 1 2014 2014
dbSNP: rs121913516
rs121913516
KIT
6 1.000 0.080 4 54729353 missense variant C/T snv 4.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs121913682
rs121913682
KIT
52 0.605 0.400 4 54733167 missense variant A/G;T snv 0.010 < 0.001 1 2014 2014
dbSNP: rs3822214
rs3822214
KIT
13 0.732 0.240 4 54727298 missense variant A/C;G;T snv 7.7E-02; 8.0E-06 0.010 1.000 1 2002 2002
dbSNP: rs754736070
rs754736070
MTTP
1 1.000 0.080 4 99597206 missense variant T/C snv 8.0E-06 7.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs1250394819
rs1250394819
TMED7 ; TMED7-TICAM2 ; LOC101927100
9 0.807 0.240 5 115616325 missense variant C/T snv 4.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs1414109649
rs1414109649
PRKAA1
1 1.000 0.080 5 40765164 missense variant A/G snv 4.0E-06 0.010 1.000 1 2011 2011