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: rs137853006
rs137853006
12 0.756 0.143 4 16013299 missense variant G/A snp 0.710 1.000 3 2008 2017
dbSNP: rs201422368
rs201422368
1 1 111120539 stop gained C/T snp 3.6E-05 0.710 1.000 1 2015 2015
dbSNP: rs786205665
rs786205665
1 1 111131424 missense variant C/T snp 3.2E-05 0.710 1.000 1 2015 2015
dbSNP: rs113624356
rs113624356
8 0.784 0.107 11 66526181 missense variant T/G snp 1.5E-03 2.0E-03 0.700 3 2002 2017
dbSNP: rs1800728
rs1800728
5 0.846 0.071 1 94011395 intron variant A/G snp 2.3E-04 1.6E-04 0.700 3 2005 2017
dbSNP: rs104894927
rs104894927
RP2
2 1.000 0.071 X 46853731 stop gained C/T snp 0.700 2 1999 2017
dbSNP: rs1064793014
rs1064793014
1 1 94007707 missense variant T/C snp 0.700 2 2015 2017
dbSNP: rs121908282
rs121908282
2 1.000 0.107 8 43173740 missense variant C/T snp 2.8E-05 6.4E-05 0.700 2 2006 2017
dbSNP: rs121909398
rs121909398
5 0.878 0.071 2 181558617 stop gained G/A,C snp 3.5E-04; 4.0E-06 2.2E-04 0.700 2 2004 2017
dbSNP: rs121918244
rs121918244
3 0.923 0.179 3 121781772 stop gained G/A snp 6.8E-05 0.700 2 2005 2017
dbSNP: rs137853907
rs137853907
3 0.923 0.071 4 16000517 stop gained G/T snp 2.8E-05 1.3E-04 0.700 2 2012 2017
dbSNP: rs145282040
rs145282040
2 1.000 0.071 1 197427454 missense variant A/G,T snp 1.6E-05 3.2E-05; 6.4E-05 0.700 2 2010 2017
dbSNP: rs1800553
rs1800553
12 0.769 0.143 1 94008251 missense variant C/T snp 4.7E-03 3.5E-03 0.700 2 1997 2017
dbSNP: rs199683808
rs199683808
1 1 68448644 missense variant G/A,C snp 1.6E-05 3.2E-05 0.700 2 2008 2017
dbSNP: rs2723341
rs2723341
5 0.878 0.143 15 71811481 splice acceptor variant A/C snp 5.3E-04 3.8E-04 0.700 2 2015 2017
dbSNP: rs373331232
rs373331232
1 4 16023380 stop gained G/A,C snp 1.7E-05 0.700 2 2014 2017
dbSNP: rs386834158
rs386834158
11 0.821 0.250 12 88077790 frameshift variant CT/C in-del 4.5E-06; 2.2E-05 0.700 2 2007 2017
dbSNP: rs386834261
rs386834261
3 1.000 0.036 14 67729338 frameshift variant GCCCTG/G in-del 0.700 2 2004 2017
dbSNP: rs543698823
rs543698823
1 4 16006637 frameshift variant T/TA in-del 2.2E-04 9.6E-05 0.700 2 2009 2017
dbSNP: rs559155109
rs559155109
4 0.878 0.143 4 127920826 missense variant A/G snp 1.1E-04 0.700 2 2015 2017
dbSNP: rs569826109
rs569826109
2 1.000 0.071 2 181604002 missense variant G/A,T snp 5.2E-05; 5.2E-05 9.6E-05 0.700 2 2009 2017
dbSNP: rs61748538
rs61748538
5 0.878 0.071 1 94098904 missense variant G/A snp 8.0E-06 0.700 2 2001 2017
dbSNP: rs61749409
rs61749409
5 0.878 0.071 1 94062710 missense variant G/A snp 4.4E-05 0.700 2 1999 2017
dbSNP: rs61749451
rs61749451
6 0.846 0.071 1 94046922 missense variant G/A,T snp 2.0E-05; 3.6E-05 3.2E-05 0.700 2 2001 2017
dbSNP: rs61750138
rs61750138
3 1.000 0.036 1 94030991 splice region variant C/A,T snp 1.2E-05 0.700 2 2000 2017