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: rs1555202126
rs1555202126
2 0.925 0.120 12 88071929 splice region variant G/C snv 0.700 0
dbSNP: rs376493409
rs376493409
12 0.742 0.280 12 88083161 stop gained G/A;T snv 7.0E-05 0.700 0
dbSNP: rs786205508
rs786205508
5 0.851 0.200 17 58208542 stop gained G/A snv 0.700 0
dbSNP: rs886039791
rs886039791
5 0.882 0.160 5 134893572 inframe deletion AGTTTGGCCCCTCAC/- delins 0.700 0
dbSNP: rs886039804
rs886039804
4 0.882 0.120 11 61366050 missense variant A/G snv 0.700 0
dbSNP: rs886039805
rs886039805
5 0.925 0.120 12 88129872 frameshift variant AA/- delins 0.700 0
dbSNP: rs886039806
rs886039806
8 0.851 0.160 14 58467887 missense variant T/A;C;G snv 0.700 0
dbSNP: rs886039811
rs886039811
6 0.807 0.320 17 19357875 missense variant A/G snv 4.0E-06 0.700 0
dbSNP: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2000 2000