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: rs142441643
rs142441643
15 0.732 0.320 5 223509 stop gained C/T snv 2.0E-04 2.4E-04 0.700 1.000 13 2011 2017
dbSNP: rs9809219
rs9809219
3 0.925 0.120 5 251100 missense variant C/T snv 4.0E-05 1.4E-05 0.700 1.000 10 1995 2017
dbSNP: rs200397144
rs200397144
3 1.000 5 251427 missense variant C/G;T snv 2.4E-05; 4.0E-06 0.700 1.000 7 2011 2018
dbSNP: rs387906780
rs387906780
4 0.882 0.120 5 251439 missense variant C/T snv 1.2E-05 2.1E-05 0.700 1.000 7 2009 2014
dbSNP: rs587781720
rs587781720
1 5 230923 missense variant C/T snv 1.2E-05 1.4E-05 0.700 1.000 3 2013 2013
dbSNP: rs766667009
rs766667009
3 0.925 0.080 5 251104 splice donor variant G/T snv 4.0E-06 1.4E-05 0.700 1.000 2 2012 2013
dbSNP: rs778207102
rs778207102
3 0.925 0.080 5 240396 stop gained G/T snv 4.0E-06 7.0E-06 0.700 1.000 2 2013 2014
dbSNP: rs779151375
rs779151375
2 5 236507 missense variant A/G snv 8.0E-06 1.4E-05 0.700 1.000 2 2013 2017
dbSNP: rs1061517
rs1061517
3 0.925 0.080 5 218356 start lost A/C;G;T snv 8.7E-06 0.700 1.000 1 2016 2016
dbSNP: rs151170408
rs151170408
3 0.925 0.080 5 235230 stop gained C/G snv 8.0E-06 7.0E-06 0.700 1.000 1 2011 2011
dbSNP: rs1553998199
rs1553998199
3 0.925 0.080 5 228248 frameshift variant G/- delins 0.700 1.000 1 2013 2013
dbSNP: rs748089700
rs748089700
3 0.925 0.080 5 240459 stop gained C/T snv 3.2E-05 4.9E-05 0.700 1.000 1 2015 2015
dbSNP: rs775827529
rs775827529
3 0.925 0.080 5 225979 stop gained C/G;T snv 8.0E-06 0.700 1.000 1 2013 2013
dbSNP: rs781764920
rs781764920
3 0.925 0.080 5 224432 stop gained C/T snv 9.2E-05 2.8E-05 0.700 1.000 1 2013 2013
dbSNP: rs878854627
rs878854627
3 0.925 0.080 5 236599 splice donor variant GG/- del 4.0E-06 7.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs1057523165
rs1057523165
3 0.925 0.080 5 223569 splice donor variant G/A snv 1.6E-05 7.0E-06 0.700 0
dbSNP: rs1064793567
rs1064793567
3 0.925 0.080 5 240451 stop gained CG/GA mnv 0.700 0
dbSNP: rs1159597886
rs1159597886
1 5 256333 splice acceptor variant G/A snv 4.0E-06 0.700 0
dbSNP: rs1458851277
rs1458851277
1 5 224359 splice acceptor variant G/C snv 4.0E-06 0.700 0
dbSNP: rs1553997826
rs1553997826
1 5 225982 frameshift variant CCATCGGTGC/- delins 0.700 0
dbSNP: rs1553998606
rs1553998606
3 0.925 0.080 5 230880 frameshift variant T/- del 0.700 0
dbSNP: rs1553999072
rs1553999072
2 1.000 5 233647 splice donor variant T/A snv 0.700 0
dbSNP: rs587782077
rs587782077
3 0.925 0.080 5 228229 frameshift variant G/- delins 1.4E-05 0.700 0
dbSNP: rs746165168
rs746165168
3 0.925 0.080 5 233635 stop gained C/A;T snv 4.0E-06 0.700 0
dbSNP: rs747939816
rs747939816
1 5 256332 splice acceptor variant A/G snv 4.0E-06 7.0E-06 0.700 0