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: rs587777177
rs587777177
1 1.000 22 20987548 missense variant C/T snv 1.6E-05 7.0E-06 0.800 1.000 6 2014 2019
dbSNP: rs587777178
rs587777178
3 0.925 0.080 22 20995865 missense variant C/T snv 4.4E-05 6.3E-05 0.800 1.000 6 2014 2019
dbSNP: rs587777180
rs587777180
1 1.000 22 20993967 missense variant G/A snv 3.2E-05 5.6E-05 0.800 1.000 6 2014 2019
dbSNP: rs797045165
rs797045165
2 0.925 22 20991686 missense variant C/T snv 7.0E-06 0.800 1.000 6 2014 2019
dbSNP: rs1419388177
rs1419388177
1 1.000 22 20996754 missense variant T/C snv 8.0E-06 0.700 1.000 6 2014 2019
dbSNP: rs753757778
rs753757778
1 1.000 22 20993964 missense variant C/A;T snv 4.0E-06; 1.6E-05 0.700 1.000 6 2014 2019
dbSNP: rs767354230
rs767354230
1 1.000 22 20992819 missense variant C/T snv 2.1E-05 0.700 1.000 6 2014 2019
dbSNP: rs776005012
rs776005012
1 1.000 22 20995805 stop lost G/T snv 8.0E-06 0.700 1.000 6 2014 2019
dbSNP: rs781431741
rs781431741
1 1.000 22 20988118 missense variant G/A snv 2.0E-05 1.4E-05 0.700 1.000 6 2014 2019
dbSNP: rs1470449160
rs1470449160
1 1.000 22 20992854 missense variant G/A snv 4.1E-06 1.4E-05 0.700 0
dbSNP: rs1569153870
rs1569153870
1 1.000 22 20985897 splice donor variant G/- delins 0.700 0
dbSNP: rs1569154722
rs1569154722
1 1.000 22 20988095 stop gained G/A snv 0.700 0
dbSNP: rs189150283
rs189150283
3 0.925 22 20992304 stop gained C/T snv 6.0E-05 7.0E-05 0.700 0
dbSNP: rs587777176
rs587777176
1 1.000 22 20985828 intron variant G/A snv 4.4E-05 1.7E-04 0.700 0
dbSNP: rs587777179
rs587777179
1 1.000 22 20996907 frameshift variant CGCA/- delins 0.700 0
dbSNP: rs587777613
rs587777613
1 1.000 22 20982392 frameshift variant G/-;GG delins 1.4E-05 0.700 0
dbSNP: rs751516987
rs751516987
1 1.000 22 20995982 missense variant C/T snv 2.4E-05 6.3E-05 0.700 0
dbSNP: rs773016962
rs773016962
1 1.000 22 20991692 missense variant G/A snv 8.8E-06 1.4E-05 0.700 0
dbSNP: rs773059569
rs773059569
1 1.000 22 20997260 missense variant T/C snv 8.0E-06 0.700 0
dbSNP: rs869320686
rs869320686
5 0.882 22 20990476 missense variant G/A snv 0.700 0