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: rs1041809852
rs1041809852
2 0.925 0.080 5 228324 splice donor variant TGCCACAGGGTAGGAATCTCATTTCT/- delins 0.700 0
dbSNP: rs1060503711
rs1060503711
1 1.000 0.080 5 225906 missense variant T/C;G snv 0.700 0
dbSNP: rs1064793567
rs1064793567
3 0.925 0.080 5 240451 stop gained CG/GA mnv 0.700 0
dbSNP: rs137852767
rs137852767
2 0.925 0.120 5 251011 missense variant C/T snv 0.700 0
dbSNP: rs137852768
rs137852768
2 0.925 0.080 5 251338 missense variant G/A snv 4.1E-06 0.800 0
dbSNP: rs1553997617
rs1553997617
2 0.925 0.080 5 225483 frameshift variant C/- delins 0.700 0
dbSNP: rs1553998229
rs1553998229
2 0.925 0.080 5 228283 frameshift variant ACGGG/- delins 0.700 0
dbSNP: rs1553998606
rs1553998606
3 0.925 0.080 5 230880 frameshift variant T/- del 0.700 0
dbSNP: rs1554000378
rs1554000378
2 0.925 0.080 5 240471 frameshift variant -/A delins 0.700 0
dbSNP: rs1554001843
rs1554001843
2 0.925 0.080 5 251051 frameshift variant -/A delins 0.700 0
dbSNP: rs1560980939
rs1560980939
2 0.925 0.080 5 218395 frameshift variant -/CTGGCGC delins 0.700 0
dbSNP: rs1560986132
rs1560986132
2 0.925 0.080 5 224461 stop gained -/TTTA delins 0.700 0
dbSNP: rs1560989804
rs1560989804
2 0.925 0.080 5 228206 frameshift variant AT/- delins 0.700 0
dbSNP: rs1560992565
rs1560992565
2 0.925 0.080 5 230985 stop gained C/G;T snv 0.700 0
dbSNP: rs1560994766
rs1560994766
2 0.925 0.080 5 233576 frameshift variant CT/- del 0.700 0
dbSNP: rs202198133
rs202198133
1 1.000 0.080 11 112088902 missense variant G/A snv 8.0E-06 0.800 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: rs747249998
rs747249998
2 0.925 0.080 5 251069 stop gained T/C;G snv 3.2E-05 0.700 0
dbSNP: rs771328239
rs771328239
2 0.925 0.080 5 233566 stop gained C/A;G;T snv 0.700 0
dbSNP: rs775143272
rs775143272
3 0.925 0.080 5 228191 stop gained C/T snv 4.0E-06 0.700 0
dbSNP: rs775827529
rs775827529
3 0.925 0.080 5 225979 stop gained C/G;T snv 8.0E-06 0.700 0
dbSNP: rs80338844
rs80338844
10 0.776 0.280 11 112088939 missense variant C/T snv 2.0E-05 1.4E-05 0.700 0
dbSNP: rs876658486
rs876658486
3 0.925 0.080 5 226041 stop gained T/A snv 0.700 0
dbSNP: rs878854628
rs878854628
2 0.925 0.080 5 236600 splice donor variant G/C snv 0.700 0