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: rs1555682265
rs1555682265
DCC
5 0.851 0.160 18 52923796 frameshift variant TTTCTGG/- delins 0.700 1.000 1 2017 2017
dbSNP: rs754914260
rs754914260
DCC
3 0.925 0.120 18 52923832 stop gained C/A;T snv 4.0E-06 0.700 1.000 1 2014 2014
dbSNP: rs797044551
rs797044551
DCC
1 1.000 0.040 18 52752339 stop gained C/A snv 0.700 1.000 1 2014 2014
dbSNP: rs797044552
rs797044552
DCC
1 1.000 0.040 18 52906200 frameshift variant -/G delins 0.700 1.000 1 2010 2010
dbSNP: rs797044553
rs797044553
DCC
1 1.000 0.040 18 53063460 splice donor variant G/A snv 0.700 1.000 1 2010 2010
dbSNP: rs797044554
rs797044554
DCC
1 1.000 0.040 18 53157428 frameshift variant -/AGCC delins 0.700 1.000 1 2014 2014
dbSNP: rs797044555
rs797044555
DCC
1 1.000 0.040 18 53402823 frameshift variant -/GGAAG delins 0.700 1.000 1 2014 2014
dbSNP: rs797044556
rs797044556
2 1.000 0.040 18 53486893 frameshift variant TC/- delins 0.700 1.000 1 2011 2011
dbSNP: rs63751220
rs63751220
3 0.882 0.120 8 96145065 missense variant A/G snv 6.4E-05 8.8E-04 0.010 1.000 1 2008 2008