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: rs386833966
rs386833966
2 0.925 0.120 13 77000824 frameshift variant T/- delins 0.700 1.000 6 1998 2013
dbSNP: rs386833969
rs386833969
2 0.925 0.120 13 77000918 frameshift variant AT/- delins 0.700 1.000 5 2002 2013
dbSNP: rs386833967
rs386833967
2 0.925 0.120 13 77000845 frameshift variant AACA/- delins 2.8E-05 0.700 1.000 3 2008 2012
dbSNP: rs786204644
rs786204644
2 0.925 0.120 13 77000667 frameshift variant AT/- delins 0.700 1.000 2 1998 2012
dbSNP: rs386833979
rs386833979
2 0.925 0.120 13 76996083 frameshift variant -/C delins 0.700 1.000 1 2012 2012
dbSNP: rs1555273604
rs1555273604
1 1.000 0.120 13 76992207 frameshift variant -/ATCCGGGCTGG delins 0.700 0
dbSNP: rs1555273881
rs1555273881
1 1.000 0.120 13 76995075 frameshift variant C/- delins 0.700 0
dbSNP: rs386833975
rs386833975
2 0.925 0.120 13 76995990 missense variant A/G snv 0.700 0
dbSNP: rs794729218
rs794729218
1 1.000 0.120 13 76995933 frameshift variant G/- del 0.700 0
dbSNP: rs28940280
rs28940280
2 0.925 0.120 13 77000580 missense variant G/A snv 8.0E-06 0.700 0
dbSNP: rs104894386
rs104894386
2 0.925 0.120 13 76995077 missense variant G/A;C snv 8.0E-06 0.700 0
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 3 2009 2015
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: rs104894385
rs104894385
2 0.925 0.120 13 76992176 stop gained G/A;T snv 2.7E-05; 3.1E-05 0.700 0