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: rs11249433
rs11249433
EMBP1
9 0.827 0.160 1 121538815 intron variant A/C;G snv 0.020 1.000 2 2010 2014
dbSNP: rs1057519913
rs1057519913
MTOR
3 0.925 0.120 1 11157172 missense variant G/C snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519914
rs1057519914
MTOR
5 0.851 0.240 1 11157174 missense variant A/G snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519915
rs1057519915
MTOR
5 0.851 0.160 1 11109318 missense variant A/C snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519916
rs1057519916
MTOR
4 0.882 0.160 1 11109320 missense variant T/A snv 0.700 1.000 1 2016 2016
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs1704754
rs1704754
HSD17B7
1 1 162790761 5 prime UTR variant C/T snv 0.70 0.62 0.010 1.000 1 2014 2014
dbSNP: rs228648
rs228648
UTS2
13 0.776 0.360 1 7853370 missense variant G/A snv 0.51 0.52 0.010 1.000 1 2015 2015
dbSNP: rs35490896
rs35490896
CLSPN
3 0.925 0.080 1 35736984 missense variant G/A snv 5.5E-02 6.5E-02 0.010 < 0.001 1 2008 2008
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.010 1.000 1 2017 2017
dbSNP: rs753535070
rs753535070
MUC1
5 0.851 0.120 1 155187350 missense variant T/C snv 8.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs786205165
rs786205165
MTOR
4 0.882 0.120 1 11157173 missense variant C/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1057520009
rs1057520009
XPO1
14 0.790 0.200 2 61492337 missense variant C/T snv 4.4E-06 0.700 1.000 1 2016 2016
dbSNP: rs1057520010
rs1057520010
XPO1
5 0.882 0.200 2 61492336 missense variant T/A;G snv 0.700 1.000 1 2016 2016
dbSNP: rs113994087
rs113994087
ALK
12 0.827 0.120 2 29209798 missense variant C/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs11895168
rs11895168
ERBB4
4 0.925 0.080 2 211377467 3 prime UTR variant A/C snv 0.68 0.010 < 0.001 1 2016 2016
dbSNP: rs121913499
rs121913499
IDH1
51 0.605 0.520 2 208248389 missense variant G/A;C;T snv 0.700 1.000 1 2016 2016
dbSNP: rs121913500
rs121913500
IDH1
96 0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs1972820
rs1972820
ERBB4
3 0.925 0.080 2 211378697 3 prime UTR variant G/A snv 0.63 0.010 < 0.001 1 2018 2018
dbSNP: rs28997576
rs28997576
BARD1
11 0.776 0.160 2 214752454 missense variant C/G;T snv 1.5E-02 0.010 1.000 1 2006 2006
dbSNP: rs63750624
rs63750624
MSH2
6 0.925 0.160 2 47410211 missense variant G/A snv 0.010 1.000 1 2015 2015
dbSNP: rs754688962
rs754688962
SF3B1
5 0.851 0.200 2 197402637 missense variant T/C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs1553622530
rs1553622530
BARD1
1 2 214781220 stop gained C/T snv 0.700 0
dbSNP: rs121913279
rs121913279
PIK3CA
101 0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06 0.740 1.000 14 2004 2016
dbSNP: rs104886003
rs104886003
PIK3CA
71 0.562 0.440 3 179218303 missense variant G/A;C snv 4.0E-06 0.710 1.000 13 2004 2016