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: rs121908188
rs121908188
25 0.742 0.360 1 25809753 missense variant G/A;C snv 1.8E-04 0.810 1.000 10 2001 2013
dbSNP: rs121908182
rs121908182
1 1.000 0.120 1 25809096 missense variant G/A snv 0.800 1.000 7 2001 2010
dbSNP: rs121908186
rs121908186
1 1.000 0.120 1 25812763 missense variant G/C snv 4.0E-06 7.0E-06 0.800 1.000 7 2001 2010
dbSNP: rs779162837
rs779162837
1 1.000 0.120 1 25813899 missense variant G/A;T snv 1.6E-05; 4.0E-06 0.800 1.000 7 2001 2010
dbSNP: rs121908185
rs121908185
1 1.000 0.120 1 25813890 missense variant G/A snv 4.8E-05 6.3E-05 0.800 1.000 6 2001 2009
dbSNP: rs121908187
rs121908187
1 1.000 0.120 1 25812789 missense variant T/G snv 0.800 1.000 6 2001 2009
dbSNP: rs756927098
rs756927098
1 1.000 0.120 1 25813898 missense variant C/T snv 8.0E-06 7.0E-06 0.800 1.000 1 2009 2009
dbSNP: rs749911126
rs749911126
1 1.000 0.120 1 25811462 missense variant A/G;T snv 4.0E-06; 4.0E-06 0.700 1.000 6 2001 2009
dbSNP: rs776738184
rs776738184
1 1.000 0.120 1 25809688 missense variant A/G snv 8.0E-06 0.700 1.000 6 2001 2009
dbSNP: rs368104077
rs368104077
1 1.000 0.120 1 25808753 frameshift variant -/A delins 0.700 1.000 4 2002 2017
dbSNP: rs1174570887
rs1174570887
1 1.000 0.120 1 25800232 start lost T/A;C;G snv 7.4E-06 0.700 1.000 3 2002 2013
dbSNP: rs121908184
rs121908184
1 1.000 0.120 1 25800231 start lost A/G snv 4.5E-05 0.700 1.000 3 2002 2013
dbSNP: rs773670891
rs773670891
1 1.000 0.120 1 25802115 splice donor variant GAGT/- delins 1.1E-04 3.2E-04 0.700 1.000 2 2011 2011
dbSNP: rs199564797
rs199564797
25 0.742 0.360 1 25809150 missense variant G/A snv 1.2E-05 1.4E-05 0.700 1.000 1 2011 2011
dbSNP: rs377215510
rs377215510
1 1.000 0.120 1 25812720 stop gained C/G;T snv 2.8E-05 0.700 1.000 1 2005 2005
dbSNP: rs1553120047
rs1553120047
1 1.000 0.120 1 25808707 stop gained G/A snv 0.700 0
dbSNP: rs1553120202
rs1553120202
1 1.000 0.120 1 25809731 stop gained G/A snv 0.700 0
dbSNP: rs1553198611
rs1553198611
1 1.000 0.120 1 25801105 frameshift variant -/GG delins 0.700 0
dbSNP: rs1557814050
rs1557814050
1 1.000 0.120 1 25800396 stop gained C/T snv 0.700 0
dbSNP: rs587776597
rs587776597
1 1.000 0.120 1 25812790 stop gained G/A snv 0.700 0
dbSNP: rs745886248
rs745886248
25 0.742 0.360 1 25811710 missense variant G/A;C;T snv 4.3E-06; 4.3E-06; 4.3E-06 0.700 0
dbSNP: rs760063405
rs760063405
1 1.000 0.120 1 25812780 stop gained C/T snv 8.1E-06 0.700 0
dbSNP: rs797044621
rs797044621
1 1.000 0.120 1 25800233 frameshift variant -/CGGCCGGGCC delins 7.3E-05 0.700 0
dbSNP: rs960468382
rs960468382
1 1.000 0.120 1 25813962 stop gained G/A snv 1.2E-05 0.700 0