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: rs776817346
rs776817346
1 1.000 0.160 10 97601855 splice acceptor variant A/G snv 4.0E-06 0.700 0
dbSNP: rs990830655
rs990830655
1 1.000 0.160 10 97600165 splice donor variant T/A;G snv 4.0E-06; 4.0E-06 0.700 0
dbSNP: rs397509360
rs397509360
1 1.000 0.160 10 97611612 inframe deletion AGG/- delins 0.700 1.000 8 2010 2016
dbSNP: rs796052092
rs796052092
1 1.000 0.160 10 97601958 inframe deletion TGC/- delins 0.700 1.000 1 2015 2015
dbSNP: rs1425736036
rs1425736036
1 1.000 0.160 10 97584819 frameshift variant -/C delins 4.0E-06 0.700 0
dbSNP: rs746776892
rs746776892
1 1.000 0.160 10 97599194 frameshift variant C/- delins 4.0E-06 4.2E-05 0.700 0
dbSNP: rs777683624
rs777683624
1 1.000 0.160 10 97599158 frameshift variant C/- delins 4.0E-06 7.0E-06 0.700 0
dbSNP: rs924232072
rs924232072
1 1.000 0.160 10 97584709 frameshift variant -/TGGTC delins 4.0E-06 0.700 0
dbSNP: rs1419840309
rs1419840309
1 1.000 0.160 10 97584826 frameshift variant T/- del 3.2E-05 1.4E-05 0.700 0
dbSNP: rs1554874148
rs1554874148
1 1.000 0.160 10 97599152 frameshift variant T/- del 0.700 0
dbSNP: rs796052091
rs796052091
1 1.000 0.160 10 97584861 frameshift variant A/- del 0.700 0
dbSNP: rs1564760008
rs1564760008
1 1.000 0.160 10 97601990 splice donor variant GG/TT mnv 0.700 0