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: rs56984562
rs56984562
6 0.827 0.200 1 156137666 missense variant C/A;G;T snv 0.810 1.000 24 1999 2017
dbSNP: rs267607570
rs267607570
2 0.925 0.120 1 156130757 missense variant G/A;C snv 4.8E-05 0.800 1.000 20 1999 2017
dbSNP: rs28933090
rs28933090
3 0.925 0.160 1 156115172 missense variant T/A;G snv 0.800 1.000 20 1999 2017
dbSNP: rs28933091
rs28933091
4 0.882 0.160 1 156134474 missense variant C/A;G snv 0.800 1.000 20 1999 2017
dbSNP: rs57045855
rs57045855
6 0.882 0.040 1 156134464 missense variant A/G;T snv 0.720 1.000 18 1999 2012
dbSNP: rs61661343
rs61661343
4 0.851 0.040 1 156130687 missense variant T/C snv 0.720 1.000 18 1999 2019
dbSNP: rs201583907
rs201583907
2 0.925 0.040 1 156137191 missense variant G/A;C snv 8.6E-05 0.700 1.000 17 1999 2012
dbSNP: rs267607568
rs267607568
1 1.000 0.040 1 156115220 missense variant G/A;C;T snv 4.1E-06 0.700 1.000 17 1999 2012
dbSNP: rs267607571
rs267607571
4 0.882 0.160 1 156134458 missense variant G/A;T snv 0.700 1.000 17 1999 2012
dbSNP: rs267607572
rs267607572
1 1.000 0.040 1 156134518 missense variant T/G snv 0.700 1.000 17 1999 2012
dbSNP: rs267607576
rs267607576
2 0.925 0.160 1 156136219 missense variant G/A;C snv 1.2E-05 0.700 1.000 17 1999 2012
dbSNP: rs28933092
rs28933092
2 1.000 0.040 1 156134497 missense variant A/G;T snv 0.800 1.000 17 1999 2012
dbSNP: rs28933093
rs28933093
5 0.882 0.160 1 156130741 missense variant G/A snv 0.810 1.000 17 1999 2012
dbSNP: rs56816490
rs56816490
4 0.925 0.120 1 156135913 stop gained G/A;T snv 0.700 1.000 17 1999 2012
dbSNP: rs58789393
rs58789393
1 1.000 0.040 1 156136010 missense variant G/A;T snv 4.0E-06 0.700 1.000 17 1999 2012
dbSNP: rs59040894
rs59040894
2 0.925 0.120 1 156115184 missense variant G/A;T snv 0.700 1.000 17 1999 2012
dbSNP: rs59065411
rs59065411
1 1.000 0.040 1 156115207 missense variant A/G snv 0.700 1.000 17 1999 2012
dbSNP: rs61195471
rs61195471
6 0.827 0.160 1 156134496 missense variant G/A snv 0.700 1.000 17 1999 2012
dbSNP: rs104893823
rs104893823
5 0.882 0.040 3 52451285 missense variant C/T snv 0.040 1.000 4 2007 2016
dbSNP: rs104894501
rs104894501
5 0.851 0.040 15 63044030 stop gained G/A;C;T snv 4.0E-06 0.040 1.000 4 2005 2013
dbSNP: rs104894505
rs104894505
4 0.882 0.040 15 63044072 missense variant G/A snv 0.040 1.000 4 2005 2017
dbSNP: rs1212453165
rs1212453165
3 0.925 0.040 15 63043751 missense variant G/A snv 6.8E-06 0.040 1.000 4 2005 2017
dbSNP: rs758264780
rs758264780
4 0.882 0.040 15 63044029 frameshift variant G/- delins 0.040 1.000 4 2005 2013
dbSNP: rs61295588
rs61295588
2 0.925 0.160 1 156134809 missense variant T/C snv 0.700 1.000 3 2013 2017
dbSNP: rs1057515421
rs1057515421
2 0.925 0.120 1 156136284 stop gained C/T snv 0.700 1.000 2 1999 2016