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: rs398098426
rs398098426
ANKS1B
1 12 99246167 intron variant TT/-;T;TTT delins 0.20 0.010 1.000 1 2017 2017
dbSNP: rs63750953
rs63750953
HBB
10 0.790 0.400 11 5227097 5 prime UTR variant TT/- delins 7.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.080 1.000 8 2006 2018
dbSNP: rs5361
rs5361
SELE ; C1orf112
47 0.623 0.720 1 169731919 missense variant T/G snv 8.3E-02; 8.0E-06 7.8E-02 0.030 1.000 3 2009 2014
dbSNP: rs556621
rs556621 		2 1.000 6 44626422 intergenic variant T/G snv 0.73 0.820 1.000 3 2012 2017
dbSNP: rs10033464
rs10033464 		8 0.807 0.200 4 110799605 downstream gene variant T/G snv 0.86 0.010 1.000 1 2013 2013
dbSNP: rs10432782
rs10432782
SOD1
7 0.807 0.160 21 31664078 intron variant T/G snv 0.19 0.010 1.000 1 2012 2012
dbSNP: rs146292819
rs146292819
ABCA1
9 0.790 0.240 9 104794495 missense variant T/G snv 2.9E-04 3.8E-04 0.010 1.000 1 2015 2015
dbSNP: rs225132
rs225132 		1 1 8035440 intron variant T/G snv 0.27 0.800 1.000 1 2014 2014
dbSNP: rs2282679
rs2282679
GC
38 0.645 0.480 4 71742666 intron variant T/G snv 0.21 0.010 1.000 1 2014 2014
dbSNP: rs2304556
rs2304556
FMNL2
1 2 152617280 intron variant T/G snv 0.36 0.700 1.000 1 2011 2011
dbSNP: rs3809021
rs3809021
PDGFD
4 0.882 0.080 11 104164894 upstream gene variant T/G snv 0.61 0.010 1.000 1 2012 2012
dbSNP: rs497177
rs497177 		1 6 44628316 intergenic variant T/G snv 0.76 0.700 1.000 1 2012 2012
dbSNP: rs56031230
rs56031230 		1 12 19018473 regulatory region variant T/G snv 3.6E-02 0.700 1.000 1 2011 2011
dbSNP: rs587777940
rs587777940
EGFR
1 7 55202667 missense variant T/G snv 7.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs61921502
rs61921502
MSRB3
2 1.000 0.080 12 65438688 intron variant T/G snv 0.10 0.010 1.000 1 2019 2019
dbSNP: rs72798544
rs72798544
COX7A2L
5 0.882 0.120 2 42372465 intron variant T/G snv 1.3E-02 0.700 1.000 1 2016 2016
dbSNP: rs734194
rs734194
NGFR ; LOC100288866
2 1.000 0.080 17 49514247 3 prime UTR variant T/G snv 9.7E-02 0.010 1.000 1 2018 2018
dbSNP: rs75188332
rs75188332 		1 8 132863908 upstream gene variant T/G snv 6.6E-02 0.700 1.000 1 2011 2011
dbSNP: rs753152
rs753152
RAMP2 ; RAMP2-AS1
6 0.882 0.160 17 42761487 intron variant T/G snv 0.12 0.010 1.000 1 2017 2017
dbSNP: rs1010
rs1010
VAMP8
7 0.807 0.120 2 85581859 3 prime UTR variant T/C;G snv 0.010 1.000 1 2009 2009
dbSNP: rs112896372
rs112896372 		1 5 3756587 intergenic variant T/C;G snv 0.010 1.000 1 2019 2019
dbSNP: rs1229984
rs1229984
ADH1B
83 0.570 0.560 4 99318162 missense variant T/C;G snv 0.90 0.010 < 0.001 1 2014 2014
dbSNP: rs13143308
rs13143308 		4 0.882 0.120 4 110793263 upstream gene variant T/C;G snv 0.700 1.000 1 2018 2018
dbSNP: rs28793911
rs28793911
ADAMTS13
1 9 133434817 intron variant T/C;G snv 0.010 1.000 1 2016 2016