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: rs10235796
rs10235796
3 0.882 0.120 7 50394939 intron variant T/C snv 0.82 0.010 1.000 1 2017 2017
dbSNP: rs104893636
rs104893636
3 0.882 0.120 2 176151875 missense variant A/C;T snv 5.2E-06; 7.9E-04 0.010 1.000 1 2005 2005
dbSNP: rs1051296
rs1051296
3 0.882 0.120 21 45514947 3 prime UTR variant A/C snv 0.43 0.44 0.010 1.000 1 2014 2014
dbSNP: rs10519612
rs10519612
3 0.882 0.120 4 141732548 intron variant A/C snv 0.10 0.010 1.000 1 2015 2015
dbSNP: rs111978267
rs111978267
3 0.882 0.120 11 2751648 intron variant C/G;T snv 2.8E-05 0.010 1.000 1 2019 2019
dbSNP: rs1169704167
rs1169704167
ATM
3 0.882 0.120 11 108284370 frameshift variant -/T delins 8.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs1194008138
rs1194008138
3 0.882 0.120 5 143400121 missense variant T/C snv 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs12402181
rs12402181
3 0.882 0.120 1 66628488 mature miRNA variant G/A snv 0.17 0.24 0.010 1.000 1 2018 2018
dbSNP: rs12434881
rs12434881
3 0.882 0.120 14 23119433 5 prime UTR variant G/A snv 0.36 0.010 1.000 1 2017 2017
dbSNP: rs12803915
rs12803915
3 0.882 0.120 11 65444508 non coding transcript exon variant G/A snv 0.16 0.17 0.010 1.000 1 2014 2014
dbSNP: rs1296957097
rs1296957097
3 0.882 0.120 22 28719401 missense variant A/G snv 0.010 1.000 1 2006 2006
dbSNP: rs1310678797
rs1310678797
VDR
3 0.882 0.120 12 47857143 missense variant C/T snv 7.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs1361742125
rs1361742125
3 0.882 0.120 5 143399842 missense variant T/C snv 4.0E-06 7.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs138047632
rs138047632
3 0.882 0.120 21 45525860 missense variant A/G snv 2.4E-03 2.2E-03 0.010 1.000 1 2008 2008
dbSNP: rs140422742
rs140422742
3 0.882 0.120 7 99778046 missense variant T/C;G snv 7.6E-05 6.3E-05 0.010 1.000 1 2004 2004
dbSNP: rs1412792500
rs1412792500
3 0.882 0.120 5 143400541 missense variant T/C snv 4.0E-06 1.4E-05 0.010 1.000 1 2008 2008
dbSNP: rs1427331568
rs1427331568
3 0.882 0.120 5 143314010 missense variant G/C snv 0.010 1.000 1 2008 2008
dbSNP: rs143125661
rs143125661
3 0.882 0.120 6 18149120 missense variant C/T snv 4.0E-06 7.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs1482545954
rs1482545954
3 0.882 0.120 19 54982407 missense variant C/T snv 7.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs1573613
rs1573613
3 0.882 0.120 12 11894684 3 prime UTR variant T/C snv 0.48 0.010 1.000 1 2014 2014
dbSNP: rs200378616
rs200378616
3 0.882 0.120 7 87544938 missense variant G/C;T snv 4.0E-05; 8.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs2742038
rs2742038
3 0.882 0.120 10 101137330 3 prime UTR variant C/T snv 0.16 0.010 1.000 1 2014 2014
dbSNP: rs35134728
rs35134728
3 0.882 0.120 1 11787277 3 prime UTR variant -/AGA delins 0.010 1.000 1 2017 2017
dbSNP: rs368005287
rs368005287
3 0.882 0.120 7 99762071 stop gained C/T snv 1.2E-05 7.0E-06 0.010 1.000 1 2004 2004
dbSNP: rs3731246
rs3731246
3 0.882 0.120 9 21971990 intron variant C/G snv 0.11 0.010 1.000 1 2017 2017