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: rs1057519980
rs1057519980
1 1.000 17 7675084 missense variant G/C snv 0.010 1.000 1 2013 2013
dbSNP: rs1159077388
rs1159077388
1 1.000 16 82164193 missense variant A/T snv 4.3E-06 0.010 1.000 1 2000 2000
dbSNP: rs1213743797
rs1213743797
1 1.000 7 41964929 missense variant C/G snv 4.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs1248634
rs1248634
1 1.000 10 77819464 splice region variant G/A snv 0.29 0.24 0.010 1.000 1 2009 2009
dbSNP: rs2228292
rs2228292
1 1.000 3 184352800 missense variant C/G snv 1.5E-02 1.6E-02 0.010 1.000 1 2007 2007
dbSNP: rs3735273
rs3735273
1 1.000 7 50529166 intron variant C/T snv 0.25 0.27 0.010 1.000 1 2013 2013
dbSNP: rs753721001
rs753721001
1 1.000 6 122399830 missense variant G/A;C snv 4.1E-06; 4.1E-06 0.010 1.000 1 2003 2003
dbSNP: rs770029606
rs770029606
1 1.000 16 46674629 missense variant G/A snv 7.7E-05 9.2E-05 0.010 1.000 1 2011 2011
dbSNP: rs773941026
rs773941026
1 1.000 13 102401633 missense variant A/G;T snv 2.4E-05 0.010 1.000 1 2017 2017
dbSNP: rs982730623
rs982730623
1 1.000 3 32146681 stop gained C/T snv 0.010 1.000 1 2018 2018
dbSNP: rs1048103951
rs1048103951
2 0.925 0.040 12 104321282 missense variant G/A snv 0.010 1.000 1 2004 2004
dbSNP: rs1199893366
rs1199893366
2 0.925 0.080 17 7674968 missense variant A/G snv 0.010 1.000 1 2016 2016
dbSNP: rs1202752581
rs1202752581
2 0.925 0.040 17 42820818 missense variant C/T snv 7.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs1237724419
rs1237724419
2 0.925 0.080 3 38575390 stop gained C/A;T snv 0.010 1.000 1 2007 2007
dbSNP: rs1337832380
rs1337832380
MBP
2 0.925 0.120 18 76984810 missense variant C/T snv 0.010 1.000 1 2009 2009
dbSNP: rs1345128632
rs1345128632
CNP
2 0.925 0.080 17 41968217 synonymous variant G/A snv 7.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs1395246796
rs1395246796
2 0.925 0.040 5 122425421 missense variant G/A snv 0.010 1.000 1 2001 2001
dbSNP: rs147066627
rs147066627
FUS
2 0.925 0.080 16 31182593 missense variant G/C snv 6.8E-05 3.3E-04 0.010 1.000 1 2018 2018
dbSNP: rs189650890
rs189650890
2 0.925 0.040 10 70598372 missense variant G/A snv 2.8E-05 0.010 1.000 1 2009 2009
dbSNP: rs200074159
rs200074159
APP
2 0.925 0.080 21 26000036 missense variant T/C snv 2.8E-05 5.6E-05 0.010 1.000 1 2005 2005
dbSNP: rs200945454
rs200945454
2 0.925 0.040 4 147542593 missense variant G/A;C snv 0.010 1.000 1 2013 2013
dbSNP: rs201621853
rs201621853
2 0.925 0.040 12 53100807 missense variant T/C snv 1.2E-05 0.010 1.000 1 2017 2017
dbSNP: rs28933088
rs28933088
2 0.925 0.080 17 41624218 missense variant A/C snv 0.010 1.000 1 1997 1997
dbSNP: rs371314838
rs371314838
2 0.925 0.160 2 39022938 missense variant C/T snv 5.6E-05 3.5E-05 0.010 1.000 1 2010 2010
dbSNP: rs3812153
rs3812153
2 0.925 0.040 6 79916658 missense variant T/C snv 0.17 0.16 0.010 1.000 1 2006 2006