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: rs113488022
rs113488022
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.100 0.970 33 2012 2019
dbSNP: rs121913377
rs121913377
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.100 0.970 33 2012 2019
dbSNP: rs121912525
rs121912525
3 0.882 0.240 2 48687950 missense variant G/T snv 2.0E-05 4.9E-05 0.030 1.000 3 1996 2015
dbSNP: rs1183057432
rs1183057432
1 1.000 0.080 3 12584570 missense variant T/C snv 4.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs121912520
rs121912520
4 0.851 0.240 2 48688020 missense variant C/G snv 0.010 1.000 1 1998 1998
dbSNP: rs121912523
rs121912523
2 0.925 0.240 2 48688162 stop gained G/T snv 8.0E-06 0.010 1.000 1 1995 1995
dbSNP: rs121913238
rs121913238
17 0.732 0.240 12 25227343 missense variant G/C;T snv 0.010 1.000 1 2016 2016
dbSNP: rs121913254
rs121913254
31 0.658 0.440 1 114713909 stop gained G/A;C;T snv 0.010 1.000 1 2016 2016
dbSNP: rs12470652
rs12470652
1 1.000 0.080 2 48694299 missense variant T/C snv 3.8E-02 3.8E-02 0.010 1.000 1 1996 1996
dbSNP: rs61755294
rs61755294
1 1.000 0.080 11 35221671 missense variant G/A;C snv 1.2E-05; 8.0E-06 0.010 1.000 1 1998 1998
dbSNP: rs746394859
rs746394859
3 0.882 0.120 11 35229182 missense variant A/G snv 4.0E-06 0.010 1.000 1 1996 1996
dbSNP: rs917607255
rs917607255
1 1.000 0.080 2 48755643 missense variant A/G snv 0.010 1.000 1 2015 2015