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: rs587776578
rs587776578
3 0.882 0.160 10 102599545 splice donor variant G/A;C snv 0.700 1.000 3 2011 2014
dbSNP: rs1554841447
rs1554841447
2 0.925 0.160 10 102509168 splice acceptor variant G/A snv 0.700 1.000 2 2012 2014
dbSNP: rs1564676479
rs1564676479
2 0.925 0.160 10 102550107 splice donor variant G/A snv 0.700 1.000 2 2012 2014
dbSNP: rs1554852279
rs1554852279
2 0.925 0.160 10 102592711 frameshift variant -/TA delins 0.700 1.000 1 2012 2012
dbSNP: rs1060501105
rs1060501105
2 0.925 0.160 10 102615266 splice acceptor variant A/T snv 0.700 0
dbSNP: rs1060501108
rs1060501108
2 0.925 0.160 10 102549993 frameshift variant G/- del 0.700 0
dbSNP: rs1060501109
rs1060501109
2 0.925 0.160 10 102550088 stop gained C/T snv 1.4E-05 0.700 0
dbSNP: rs1477199832
rs1477199832
2 0.925 0.160 10 102597223 frameshift variant -/C delins 0.700 0
dbSNP: rs1554840869
rs1554840869
2 0.925 0.160 10 102504322 frameshift variant -/C delins 0.700 0
dbSNP: rs1564654588
rs1564654588
2 0.925 0.160 10 102504327 stop gained A/T snv 0.700 0
dbSNP: rs1564698683
rs1564698683
2 0.925 0.160 10 102597207 stop gained G/A snv 0.700 0
dbSNP: rs1564698850
rs1564698850
2 0.925 0.160 10 102597278 frameshift variant -/TGTGT ins 0.700 0
dbSNP: rs28942088
rs28942088
1 1.000 0.040 10 102504196 missense variant C/T snv 0.700 0
dbSNP: rs863224925
rs863224925
1 1.000 0.040 10 102504263 frameshift variant C/- del 0.700 0