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: rs58932704
rs58932704
4 0.776 0.200 1 156136413 missense variant C/T snv 0.810 1.000 0 2008 2017
dbSNP: rs57629361
rs57629361
4 0.827 0.280 1 156137207 missense variant C/A;G;T snv 9.3E-06 0.800 1.000 11 1991 2014
dbSNP: rs121912496
rs121912496
3 0.882 0.120 1 156134910 missense variant C/G;T snv 0.800 1.000 3 2008 2017
dbSNP: rs57207746
rs57207746
1 0.925 0.120 1 156134860 missense variant G/A snv 0.800 1.000 3 2000 2017
dbSNP: rs57520892
rs57520892
4 0.776 0.200 1 156137204 missense variant G/A;C snv 4.1E-05 0.800 1.000 0 2012 2017
dbSNP: rs60934003
rs60934003
1 0.882 0.160 1 156137213 missense variant T/C snv 0.800 1.000 0 2012 2017
dbSNP: rs28933091
rs28933091
4 0.882 0.160 1 156134474 missense variant C/A;G snv 0.710 1.000 0 2001 2001
dbSNP: rs61672878
rs61672878
3 0.776 0.200 1 156136094 missense variant G/A;T snv 0.710 1.000 0 2004 2004
dbSNP: rs59332535
rs59332535
5 0.827 0.160 1 156134911 missense variant G/A snv 0.700 1.000 13 2000 2014
dbSNP: rs797045011
rs797045011
2 0.925 0.160 1 156135314 splice donor variant T/C snv 0.700 1.000 1 2013 2013
dbSNP: rs878853220
rs878853220
6 0.827 0.200 1 156130818 intron variant T/G snv 0.700 1.000 1 2016 2016
dbSNP: rs11575937
rs11575937
14 0.653 0.480 1 156136985 missense variant G/A;T snv 0.700 0
dbSNP: rs1553265999
rs1553265999
1 1.000 0.120 1 156136925 missense variant A/C snv 0.700 0
dbSNP: rs267607539
rs267607539
1 1.000 0.120 1 156137237 splice region variant G/A;C snv 0.700 0
dbSNP: rs267607540
rs267607540
1 1.000 0.120 1 156134509 inframe deletion GAA/- delins 0.700 0
dbSNP: rs267607632
rs267607632
4 0.851 0.120 1 156134976 splice donor variant G/A;C snv 0.700 0
dbSNP: rs386134243
rs386134243
16 0.708 0.360 1 156135967 missense variant C/A;T snv 4.0E-06 0.700 0
dbSNP: rs56699480
rs56699480
1 1.000 0.120 1 156137017 stop gained C/T snv 0.700 0
dbSNP: rs56771886
rs56771886
2 0.925 0.160 1 156135923 frameshift variant T/- delins 0.700 0
dbSNP: rs58048078
rs58048078
1 0.925 0.120 1 156134942 stop gained T/A;C snv 4.0E-06 0.700 0
dbSNP: rs60458016
rs60458016
4 0.827 0.120 1 156136036 stop gained G/A;T snv 0.700 0
dbSNP: rs60682848
rs60682848
4 0.790 0.200 1 156134838 stop gained C/T snv 7.0E-06 0.700 0
dbSNP: rs61046466
rs61046466
2 1.000 0.120 1 156114934 stop gained C/T snv 0.700 0
dbSNP: rs61195471
rs61195471
3 0.827 0.160 1 156134496 missense variant G/A snv 0.700 0
dbSNP: rs61295588
rs61295588
1 0.925 0.160 1 156134809 missense variant T/C snv 0.700 0