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: rs644242
rs644242
3 0.882 0.040 11 31791253 non coding transcript exon variant C/A;G snv 0.030 1.000 3 2011 2018
dbSNP: rs1064795104
rs1064795104
17 0.790 0.440 2 72498492 stop gained A/C snv 0.700 1.000 2 2013 2014
dbSNP: rs6885224
rs6885224
3 0.882 0.040 5 11169833 intron variant C/A;T snv 0.020 1.000 2 2011 2014
dbSNP: rs10488
rs10488
1 1.000 0.040 11 102797291 synonymous variant C/G;T snv 4.0E-06; 5.7E-02 0.010 1.000 1 2012 2012
dbSNP: rs104894910
rs104894910
NYX
3 0.882 0.080 X 41473734 missense variant G/C snv 0.010 1.000 1 2006 2006
dbSNP: rs1064583
rs1064583
2 0.925 0.040 6 116125413 missense variant A/C;G snv 0.37 0.700 1.000 1 2016 2016
dbSNP: rs10824518
rs10824518
3 0.882 0.040 10 77303784 intron variant T/A;C snv 0.700 1.000 1 2016 2016
dbSNP: rs10936538
rs10936538
1 1.000 0.040 3 167439281 downstream gene variant C/A;T snv 0.010 1.000 1 2012 2012
dbSNP: rs11225395
rs11225395
11 0.776 0.360 11 102725749 intron variant A/C;G snv 0.010 1.000 1 2012 2012
dbSNP: rs11658305
rs11658305
1 1.000 0.040 17 7526004 intergenic variant A/C;T snv 0.700 1.000 1 2016 2016
dbSNP: rs12603825
rs12603825
1 1.000 0.040 17 1770111 intron variant G/A;T snv 0.010 1.000 1 2013 2013
dbSNP: rs1327062642
rs1327062642
11 0.827 0.200 6 35509903 frameshift variant -/G delins 4.0E-06 0.700 1.000 1 2017 2017
dbSNP: rs1555639076
rs1555639076
16 0.790 0.400 17 67893677 splice donor variant A/- delins 0.700 1.000 1 2017 2017
dbSNP: rs1644731
rs1644731
2 0.925 0.040 19 10021323 missense variant T/A;C snv 4.0E-06; 0.52 0.010 1.000 1 2010 2010
dbSNP: rs1867315
rs1867315
3 0.882 0.120 15 78977393 intron variant C/G;T snv 0.010 1.000 1 2015 2015
dbSNP: rs201140091
rs201140091
1 1.000 0.040 10 48200198 intron variant A/-;AAAAA;AAAAAA;AAAAAAAAA;AAAAAAAAAA;AAAAAAAAAAA;AAAAAAAAAAAAA;AAAAAAAAAAAAAA delins 0.700 1.000 1 2016 2016
dbSNP: rs2071754
rs2071754
1 1.000 0.040 11 31791034 non coding transcript exon variant C/G;T snv 0.010 1.000 1 2018 2018
dbSNP: rs2233789
rs2233789
2 0.925 0.040 19 10013026 upstream gene variant C/A;T snv 0.010 1.000 1 2010 2010
dbSNP: rs2973644
rs2973644
2 0.925 0.040 5 44384081 intron variant C/A;T snv 0.010 1.000 1 2019 2019
dbSNP: rs3026393
rs3026393
2 0.925 0.040 11 31790667 intron variant A/C;G;T snv 0.48; 8.0E-06; 7.6E-05 0.010 1.000 1 2014 2014
dbSNP: rs3760753
rs3760753
1 1.000 0.040 19 10011783 upstream gene variant G/A;T snv 0.010 1.000 1 2010 2010
dbSNP: rs397515624
rs397515624
4 0.851 0.040 21 43169133 missense variant C/T snv 4.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs61049169
rs61049169
1 1.000 0.040 2 146131140 intergenic variant G/A;C snv 0.700 1.000 1 2016 2016
dbSNP: rs747797174
rs747797174
2 0.925 0.040 15 74070978 missense variant C/A;G;T snv 1.2E-05 0.010 1.000 1 2019 2019
dbSNP: rs748448196
rs748448196
1 1.000 0.040 1 90939337 missense variant T/C snv 0.010 1.000 1 2019 2019