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: rs1235044536
rs1235044536
1 1.000 2 165310331 missense variant A/T snv 4.0E-06 0.700 1.000 20 2009 2019
dbSNP: rs1553463676
rs1553463676
1 1.000 2 165389291 missense variant C/T snv 0.700 1.000 20 2009 2019
dbSNP: rs886041259
rs886041259
1 1.000 2 165386971 stop gained G/A;T snv 0.700 1.000 20 2009 2019
dbSNP: rs796053157
rs796053157
1 1.000 2 165388692 missense variant G/A snv 0.700 1.000 1 2013 2013
dbSNP: rs1057519523
rs1057519523
1 1.000 2 165373342 missense variant A/G snv 0.700 0
dbSNP: rs147522594
rs147522594
1 1.000 2 165386759 missense variant G/C snv 8.4E-04 3.4E-04 0.700 0
dbSNP: rs1553462134
rs1553462134
1 1.000 2 165380718 stop gained C/A;G;T snv 0.700 0
dbSNP: rs1553564139
rs1553564139
1 1.000 2 165295824 start lost A/T snv 0.700 0
dbSNP: rs1553564144
rs1553564144
1 1.000 2 165295834 stop gained C/G snv 0.700 0
dbSNP: rs1553568045
rs1553568045
1 1.000 2 165310506 frameshift variant C/- delins 0.700 0
dbSNP: rs1553569739
rs1553569739
1 1.000 2 165315649 frameshift variant CA/- delins 0.700 0
dbSNP: rs755003900
rs755003900
1 1.000 2 165323304 missense variant G/A snv 0.700 0
dbSNP: rs776206684
rs776206684
1 1.000 2 165313924 missense variant C/G;T snv 4.0E-06 0.700 0
dbSNP: rs796053115
rs796053115
1 1.000 2 165344627 missense variant G/A snv 0.700 0
dbSNP: rs796053119
rs796053119
1 1.000 2 165344707 missense variant G/C snv 0.700 0
dbSNP: rs796053131
rs796053131
1 1.000 2 165374689 missense variant T/A snv 0.700 0
dbSNP: rs796053171
rs796053171
1 1.000 2 165308795 splice donor variant G/A;T snv 0.700 0
dbSNP: rs796053183
rs796053183
1 1.000 2 165314014 missense variant A/C;G snv 0.700 0
dbSNP: rs797045943
rs797045943
1 1.000 2 165388647 missense variant T/C snv 0.700 0
dbSNP: rs387906685
rs387906685
2 0.925 0.040 2 165380702 missense variant A/C;G snv 0.800 1.000 20 2009 2019
dbSNP: rs794727444
rs794727444
2 0.925 0.040 2 165389451 missense variant G/A;T snv 0.700 1.000 20 2009 2019
dbSNP: rs796053126
rs796053126
2 0.925 0.080 2 165354267 stop gained G/A;T snv 0.800 1.000 5 2013 2017
dbSNP: rs794727152
rs794727152
2 0.925 0.080 2 165342465 missense variant G/A snv 0.800 1.000 4 2013 2017
dbSNP: rs121917752
rs121917752
2 0.925 0.080 2 165309414 missense variant G/A snv 0.700 1.000 3 2004 2018
dbSNP: rs121917751
rs121917751
2 0.925 0.080 2 165344666 missense variant G/A snv 0.700 1.000 2 2004 2018