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: rs56144125
rs56144125
6 0.827 0.240 11 6617154 splice acceptor variant C/A;G;T snv 4.0E-04; 1.2E-05 0.700 1.000 6 1997 2013
dbSNP: rs119455955
rs119455955
4 0.851 0.120 11 6617040 stop gained G/A snv 2.2E-04 2.4E-04 0.700 1.000 5 1997 2013
dbSNP: rs121908202
rs121908202
2 0.925 0.120 11 6615172 missense variant G/A snv 2.4E-05 0.700 1.000 4 1999 2013
dbSNP: rs202189057
rs202189057
2 0.925 0.120 11 6617695 stop gained A/T snv 4.0E-06 0.700 1.000 4 2009 2016
dbSNP: rs119455954
rs119455954
2 0.925 0.120 11 6616056 missense variant C/T snv 1.6E-05 4.9E-05 0.700 1.000 3 1998 2015
dbSNP: rs1554902052
rs1554902052
2 0.925 0.120 11 6617430 splice acceptor variant T/C snv 0.700 1.000 2 2001 2015
dbSNP: rs759080581
rs759080581
1 1.000 0.120 11 6618809 stop gained G/A;T snv 1.2E-05; 4.0E-06 0.700 1.000 2 1999 2013
dbSNP: rs113019349
rs113019349
2 0.925 0.120 11 6616004 splice donor variant C/G;T snv 0.700 1.000 1 1999 1999
dbSNP: rs121908209
rs121908209
2 0.925 0.120 11 6617045 missense variant C/G;T snv 4.0E-06; 4.0E-06 0.700 1.000 1 2003 2003
dbSNP: rs398122959
rs398122959
2 0.925 0.120 11 6615199 missense variant A/C snv 4.0E-06 1.4E-05 0.700 1.000 1 2013 2013
dbSNP: rs746085696
rs746085696
1 1.000 0.120 11 6619191 splice region variant C/G;T snv 4.0E-06 0.700 1.000 1 2013 2013
dbSNP: rs1060502179
rs1060502179
1 1.000 0.120 11 6618823 missense variant A/C snv 7.0E-06 0.700 0
dbSNP: rs119455957
rs119455957
3 0.882 0.120 11 6616696 missense variant C/A snv 8.0E-06 7.0E-06 0.700 0
dbSNP: rs121908199
rs121908199
2 0.925 0.120 11 6615542 missense variant C/T snv 0.700 0
dbSNP: rs121908200
rs121908200
2 0.925 0.120 11 6615442 missense variant C/G snv 2.0E-05 2.1E-05 0.700 0
dbSNP: rs1554902216
rs1554902216
2 0.925 0.120 11 6618820 frameshift variant AG/- delins 0.700 0
dbSNP: rs1564855725
rs1564855725
5 0.882 0.160 11 6617621 splice region variant C/T snv 0.700 0
dbSNP: rs1564855860
rs1564855860
1 1.000 0.120 11 6617769 stop gained G/C snv 0.700 0
dbSNP: rs750428882
rs750428882
2 1.000 0.120 11 6616375 missense variant G/A;C snv 4.0E-06 0.700 0
dbSNP: rs756564767
rs756564767
3 0.882 0.120 11 6617627 stop gained G/A snv 6.4E-05 4.2E-05 0.700 0
dbSNP: rs763162812
rs763162812
2 0.925 0.120 11 6616720 missense variant T/A snv 1.6E-05 2.8E-05 0.700 0
dbSNP: rs765380155
rs765380155
2 0.925 0.120 11 6616374 missense variant C/T snv 4.0E-06 1.4E-05 0.700 0
dbSNP: rs786204753
rs786204753
2 0.925 0.120 11 6615217 stop gained C/T snv 0.700 0