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: rs11974610
rs11974610
2 7 99930354 intron variant G/A snv 0.30 0.010 1.000 1 2011 2011
dbSNP: rs12521798
rs12521798
2 5 79890115 intergenic variant T/C snv 0.21 0.010 1.000 1 2018 2018
dbSNP: rs12568757
rs12568757
2 1 150757317 intron variant G/A snv 0.42 0.010 1.000 1 2011 2011
dbSNP: rs1279417718
rs1279417718
2 1 32806493 missense variant G/T snv 4.0E-06 7.0E-06 0.010 < 0.001 1 2019 2019
dbSNP: rs1330512770
rs1330512770
2 7 55161592 missense variant G/A snv 1.2E-05 0.010 1.000 1 2010 2010
dbSNP: rs1413239
rs1413239
2 1 97221459 intron variant C/T snv 0.41 0.010 1.000 1 2010 2010
dbSNP: rs1474642
rs1474642
2 6 170543473 intron variant A/G snv 0.13 0.010 1.000 1 2011 2011
dbSNP: rs17748074
rs17748074
DCC
2 18 52420925 intron variant A/G;T snv 0.010 1.000 1 2018 2018
dbSNP: rs2242578
rs2242578
2 12 57459370 non coding transcript exon variant G/A;C snv 0.010 1.000 1 2010 2010
dbSNP: rs3750898
rs3750898
2 10 113850156 missense variant C/A;G snv 4.0E-06; 0.77 0.010 1.000 1 2018 2018
dbSNP: rs3887412
rs3887412
2 16 16081173 intron variant A/T snv 0.25 0.010 1.000 1 2010 2010
dbSNP: rs492338
rs492338
2 21 42281867 intron variant A/G snv 0.52 0.010 1.000 1 2014 2014
dbSNP: rs6552496
rs6552496
2 4 181371930 intergenic variant C/A snv 0.52 0.010 1.000 1 2018 2018
dbSNP: rs774909609
rs774909609
2 9 34990673 missense variant C/T snv 1.2E-04 1.3E-04 0.700 1.000 1 2015 2015
dbSNP: rs8060632
rs8060632
2 16 83591958 intron variant A/C snv 0.68 0.010 1.000 1 2018 2018
dbSNP: rs916758
rs916758
2 7 96096624 intron variant A/G snv 0.20 0.010 1.000 1 2011 2011
dbSNP: rs377504835
rs377504835
1 12 120438230 splice donor variant G/A;C snv 4.0E-06; 4.9E-05 0.700 0
dbSNP: rs777219451
rs777219451
1 2 232540617 missense variant C/T snv 1.6E-05 7.0E-06 0.700 0
dbSNP: rs1800562
rs1800562
262 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.010 1.000 1 2006 2006
dbSNP: rs6265
rs6265
272 0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15 0.010 < 0.001 1 2018 2018
dbSNP: rs759834365
rs759834365
237 0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05 0.010 < 0.001 1 2018 2018
dbSNP: rs1799945
rs1799945
226 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.010 1.000 1 2006 2006
dbSNP: rs1695
rs1695
188 0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 0.010 1.000 1 2009 2009
dbSNP: rs387907272
rs387907272
73 0.572 0.520 3 38141150 stop lost T/C snv 5.2E-05 7.0E-06 0.010 1.000 1 2020 2020
dbSNP: rs3025039
rs3025039
62 0.576 0.720 6 43784799 3 prime UTR variant C/T snv 0.13 0.010 1.000 1 2019 2019