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: rs34946266
rs34946266
1 1.000 0.160 12 101786014 missense variant T/A;C snv 4.0E-06; 1.2E-05 0.700 1.000 15 2005 2017
dbSNP: rs144060383
rs144060383
1 1.000 0.160 12 101764563 missense variant A/C snv 2.8E-05 2.1E-05 0.700 0
dbSNP: rs281865023
rs281865023
1 1.000 0.160 12 101796764 splice acceptor variant T/C snv 0.700 0
dbSNP: rs281865028
rs281865028
1 1.000 0.160 12 101764384 stop gained G/A;T snv 0.700 0
dbSNP: rs281865030
rs281865030
1 1.000 0.160 12 101764257 frameshift variant -/T delins 0.700 0
dbSNP: rs281865032
rs281865032
1 1.000 0.160 12 101761343 frameshift variant -/A delins 0.700 0
dbSNP: rs281865033
rs281865033
1 1.000 0.160 12 101760133 frameshift variant -/G ins 0.700 0
dbSNP: rs281865035
rs281865035
1 1.000 0.160 12 101757655 frameshift variant T/- del 0.700 0
dbSNP: rs281865036
rs281865036
1 1.000 0.160 12 101757211 splice donor variant C/T snv 0.700 0
dbSNP: rs281865037
rs281865037
1 1.000 0.160 12 101753540 splice acceptor variant C/T snv 0.700 0
dbSNP: rs34161232
rs34161232
1 1.000 0.160 12 101764729 frameshift variant A/TTT delins 0.700 0
dbSNP: rs34256381
rs34256381
1 1.000 0.160 12 101760044 frameshift variant -/TAGG delins 0.700 0
dbSNP: rs34517004
rs34517004
1 1.000 0.160 12 101771079 frameshift variant T/- delins 0.700 0
dbSNP: rs34924076
rs34924076
1 1.000 0.160 12 101765175 frameshift variant -/TATATATA delins 0.700 0
dbSNP: rs35878526
rs35878526
1 1.000 0.160 12 101771097 stop gained G/A snv 4.0E-06 2.8E-05 0.700 0
dbSNP: rs386765812
rs386765812
1 1.000 0.160 12 101764985 missense variant TG/CA mnv 0.700 0
dbSNP: rs281865026
rs281865026
2 0.925 0.160 12 101770109 missense variant G/A snv 1.6E-05 1.4E-05 0.800 1.000 17 2005 2017
dbSNP: rs137852895
rs137852895
2 0.925 0.160 12 101770085 missense variant T/C;G snv 0.700 1.000 15 2005 2017
dbSNP: rs137852900
rs137852900
2 0.925 0.160 12 101770185 missense variant A/G snv 7.0E-06 0.800 1.000 15 2005 2017
dbSNP: rs281864947
rs281864947
2 0.925 0.160 12 101830632 missense variant G/T snv 8.0E-06 0.700 1.000 15 2005 2017
dbSNP: rs281864953
rs281864953
2 0.925 0.160 12 101790019 missense variant C/A snv 0.700 1.000 15 2005 2017
dbSNP: rs281864970
rs281864970
2 0.925 0.160 12 101770518 missense variant C/A;T snv 8.0E-06 0.700 1.000 15 2005 2017
dbSNP: rs281864973
rs281864973
2 0.925 0.160 12 101770097 missense variant A/G snv 4.0E-06 0.700 1.000 15 2005 2017
dbSNP: rs281864975
rs281864975
2 0.925 0.160 12 101768120 missense variant C/T snv 0.700 1.000 15 2005 2017
dbSNP: rs281864977
rs281864977
2 0.925 0.160 12 101768064 missense variant A/C snv 0.700 1.000 15 2005 2017