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: rs104894386
rs104894386
2 0.925 0.120 13 76995077 missense variant G/A;C snv 8.0E-06 0.800 1.000 10 1998 2015
dbSNP: rs28940280
rs28940280
2 0.925 0.120 13 77000580 missense variant G/A snv 8.0E-06 0.810 1.000 10 1998 2015
dbSNP: rs386833975
rs386833975
2 0.925 0.120 13 76995990 missense variant A/G snv 0.800 1.000 10 1998 2015
dbSNP: rs386833981
rs386833981
3 0.925 0.120 13 77000517 missense variant T/G snv 0.800 1.000 10 1998 2015
dbSNP: rs386833969
rs386833969
2 0.925 0.120 13 77000918 frameshift variant AT/- delins 0.700 1.000 6 1998 2013
dbSNP: rs386833980
rs386833980
2 0.925 0.120 13 76996086 stop gained G/A snv 1.6E-05 3.5E-05 0.700 1.000 4 2010 2015
dbSNP: rs386833979
rs386833979
2 0.925 0.120 13 76996083 frameshift variant -/C delins 0.700 1.000 3 2000 2012
dbSNP: rs104894385
rs104894385
2 0.925 0.120 13 76992176 stop gained G/A;T snv 2.7E-05; 3.1E-05 0.700 1.000 2 2000 2002
dbSNP: rs546989392
rs546989392
2 0.925 0.120 13 76996010 stop gained C/T snv 2.0E-05 7.7E-05 0.700 1.000 1 2013 2013
dbSNP: rs786204644
rs786204644
2 0.925 0.120 13 77000667 frameshift variant AT/- delins 0.700 1.000 1 2012 2012
dbSNP: rs386833966
rs386833966
2 0.925 0.120 13 77000824 frameshift variant T/- delins 0.700 0
dbSNP: rs386833967
rs386833967
2 0.925 0.120 13 77000845 frameshift variant AACA/- delins 2.8E-05 0.700 0
dbSNP: rs148862100
rs148862100
1 1.000 0.120 13 77000866 missense variant A/G snv 1.3E-05 7.0E-06 0.800 1.000 10 1998 2015
dbSNP: rs386833968
rs386833968
1 1.000 0.120 13 77000882 stop gained G/A;T snv 4.3E-06 0.700 1.000 10 1998 2015
dbSNP: rs386833976
rs386833976
1 1.000 0.120 13 76996008 missense variant T/C snv 4.0E-06 0.800 1.000 10 1998 2015
dbSNP: rs386833977
rs386833977
1 1.000 0.120 13 76996028 missense variant C/T snv 0.800 1.000 10 1998 2015
dbSNP: rs386833978
rs386833978
1 1.000 0.120 13 76996035 missense variant G/C snv 0.800 1.000 10 1998 2015
dbSNP: rs1555274387
rs1555274387
1 1.000 0.120 13 77000883 frameshift variant T/- delins 0.700 1.000 3 2002 2013
dbSNP: rs121908292
rs121908292
1 1.000 0.120 13 77000799 stop gained G/T snv 0.700 1.000 2 2008 2013
dbSNP: rs587780315
rs587780315
2 1.000 0.120 13 76996086 frameshift variant G/- delins 0.700 1.000 2 2010 2013
dbSNP: rs869312751
rs869312751
1 1.000 0.120 13 76996109 stop gained C/T snv 0.700 1.000 2 2012 2015
dbSNP: rs1555274373
rs1555274373
1 1.000 0.120 13 77000808 frameshift variant T/- delins 0.700 1.000 1 2013 2013
dbSNP: rs386833971
rs386833971
1 1.000 0.120 13 76995175 stop gained C/T snv 2.4E-05 0.700 1.000 1 2012 2012
dbSNP: rs386833972
rs386833972
1 1.000 0.120 13 76995939 stop gained T/G snv 4.0E-06; 4.0E-06 0.700 1.000 1 2012 2012
dbSNP: rs1057516390
rs1057516390
1 1.000 0.120 13 76995901 splice acceptor variant G/- del 0.700 0