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: rs1064794050
rs1064794050
1 1.000 0.080 11 2135446 stop gained G/A;C snv 0.700 0
dbSNP: rs1114167317
rs1114167317
1 1.000 0.080 8 56167307 frameshift variant T/- delins 0.700 0
dbSNP: rs1114167318
rs1114167318
1 1.000 0.080 8 56166383 frameshift variant G/- delins 0.700 0
dbSNP: rs1114167319
rs1114167319
1 1.000 0.080 12 65828082 stop gained C/T snv 0.700 0
dbSNP: rs1114167320
rs1114167320
1 1.000 0.080 12 65828078 frameshift variant A/- del 0.700 0
dbSNP: rs1114167321
rs1114167321
1 1.000 0.080 11 2135365 splice donor variant -/GC delins 0.700 0
dbSNP: rs137852973
rs137852973
13 0.752 0.200 11 62702493 missense variant G/A;C snv 7.0E-06 0.030 1.000 3 2007 2015
dbSNP: rs137852972
rs137852972
10 0.752 0.240 11 62702499 missense variant T/C snv 1.6E-05 0.020 1.000 2 2007 2010
dbSNP: rs28931614
rs28931614
21 0.672 0.520 4 1804392 missense variant G/A;C snv 0.010 1.000 1 2016 2016
dbSNP: rs318240750
rs318240750
3 0.925 0.240 11 2884119 missense variant C/A;G snv 0.010 < 0.001 1 2013 2013
dbSNP: rs770873375
rs770873375
2 0.925 0.080 7 50612776 missense variant T/C snv 2.4E-05 0.010 1.000 1 2016 2016
dbSNP: rs80244589
rs80244589
1 1.000 0.080 7 50674515 missense variant G/A snv 5.6E-04 2.0E-04 0.010 1.000 1 2000 2000