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: rs34637584
rs34637584
78 0.583 0.480 12 40340400 missense variant G/A snv 5.3E-04 3.6E-04 0.720 1.000 10 2004 2018
dbSNP: rs1131691712
rs1131691712
1 19 13286952 frameshift variant -/A delins 4.2E-06 0.700 1.000 46 1988 2017
dbSNP: rs781139634
rs781139634
2 2 25235768 stop gained G/A snv 7.0E-06 0.700 1.000 36 1989 2018
dbSNP: rs1555869758
rs1555869758
3 1.000 0.040 20 63438654 missense variant T/C snv 0.700 1.000 29 1980 2017
dbSNP: rs1555873985
rs1555873985
4 0.925 20 63445322 missense variant G/A;C snv 0.700 1.000 29 1980 2017
dbSNP: rs1382415023
rs1382415023
SON
3 1.000 21 33554945 frameshift variant GAAA/- delins 0.700 1.000 28 1988 2016
dbSNP: rs1555899177
rs1555899177
SON
4 1.000 21 33554005 frameshift variant ACTC/- del 0.700 1.000 28 1988 2016
dbSNP: rs786205232
rs786205232
5 0.925 0.040 1 110603893 missense variant C/T snv 4.0E-06 0.700 1.000 28 1991 2017
dbSNP: rs886041761
rs886041761
6 0.925 0.200 1 110603902 missense variant C/T snv 0.700 1.000 28 1991 2017
dbSNP: rs1064797245
rs1064797245
12 0.776 0.280 19 41970540 missense variant G/A snv 0.700 1.000 27 1988 2017
dbSNP: rs1554776842
rs1554776842
1 9 127660080 frameshift variant C/- delins 0.700 1.000 27 1998 2016
dbSNP: rs1554777375
rs1554777375
2 9 127665304 frameshift variant -/A delins 0.700 1.000 27 1998 2016
dbSNP: rs1554777919
rs1554777919
2 9 127669950 frameshift variant G/- delins 0.700 1.000 27 1998 2016
dbSNP: rs1554778941
rs1554778941
2 9 127682485 frameshift variant G/- delins 0.700 1.000 27 1998 2016
dbSNP: rs200891944
rs200891944
1 19 41981976 missense variant C/A;T snv 0.700 1.000 27 1988 2017
dbSNP: rs606231435
rs606231435
18 0.827 0.240 19 41970539 missense variant C/T snv 0.700 1.000 27 1988 2017
dbSNP: rs767199598
rs767199598
1 9 127682451 stop gained C/A;T snv 0.700 1.000 27 1998 2016
dbSNP: rs796053361
rs796053361
4 0.925 0.040 9 127668160 missense variant G/A;T snv 0.700 1.000 27 1998 2016
dbSNP: rs1553270522
rs1553270522
3 1.000 1 244054804 frameshift variant GATGA/- delins 0.700 1.000 26 1997 2017
dbSNP: rs1555230924
rs1555230924
2 12 51806351 missense variant C/A snv 0.700 1.000 26 1995 2017
dbSNP: rs869312966
rs869312966
7 0.827 0.120 12 51806345 missense variant G/T snv 0.700 1.000 26 1995 2017
dbSNP: rs875989786
rs875989786
2 1.000 1 244054957 stop gained C/T snv 0.700 1.000 26 1997 2017
dbSNP: rs1554216308
rs1554216308
1 5 141626221 missense variant T/C snv 0.700 1.000 25 1999 2016
dbSNP: rs587783685
rs587783685
5 0.925 0.120 12 49032113 stop gained G/A snv 0.700 1.000 25 1988 2017
dbSNP: rs797045047
rs797045047
3 1.000 9 137162510 missense variant G/A;C snv 0.700 1.000 25 1983 2017