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: rs372855769
rs372855769
1 1.000 0.320 4 6302449 missense variant C/T snv 1.2E-05 2.1E-05 0.800 1.000 8 1998 2012
dbSNP: rs199946797
rs199946797
3 0.882 0.360 4 6301467 missense variant C/A;T snv 6.7E-04 0.800 0
dbSNP: rs1402999203
rs1402999203
1 1.000 0.320 4 6301801 missense variant A/G snv 4.0E-06 0.700 1.000 8 1998 2012
dbSNP: rs148953711
rs148953711
1 1.000 0.320 4 6291241 missense variant G/A snv 2.0E-05 4.9E-05 0.700 1.000 8 1998 2012
dbSNP: rs35932623
rs35932623
1 1.000 0.320 4 6302247 missense variant C/T snv 5.0E-03 4.0E-03 0.700 1.000 8 1998 2012
dbSNP: rs369671890
rs369671890
1 1.000 0.320 4 6277628 missense variant C/A;T snv 2.3E-04 8.4E-05 0.700 1.000 8 1998 2012
dbSNP: rs372249044
rs372249044
1 1.000 0.320 4 6289068 missense variant G/A snv 1.4E-05 1.4E-05 0.700 1.000 8 1998 2012
dbSNP: rs71530910
rs71530910
3 0.882 0.360 4 6301680 missense variant C/T snv 1.2E-05 2.1E-05 0.700 1.000 8 1998 2012
dbSNP: rs754373473
rs754373473
1 1.000 0.320 4 6301863 missense variant T/C snv 8.0E-06 0.700 1.000 8 1998 2012
dbSNP: rs387906930
rs387906930
8 0.790 0.360 4 6301846 missense variant C/G;T snv 0.700 1.000 6 2001 2016
dbSNP: rs71530923
rs71530923
1 1.000 0.320 4 6277579 stop gained C/G;T snv 9.3E-05 0.700 1.000 3 1998 2008
dbSNP: rs1560408865
rs1560408865
1 1.000 0.320 4 6289109 frameshift variant C/- delins 0.700 1.000 1 2013 2013
dbSNP: rs752461187
rs752461187
1 1.000 0.320 4 6291304 inframe insertion AAG/-;AAGAAG delins 7.0E-06 0.700 1.000 1 2014 2014
dbSNP: rs797045075
rs797045075
1 1.000 0.320 4 6302058 missense variant T/C snv 7.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs797045076
rs797045076
1 1.000 0.320 4 6302441 frameshift variant TCTT/- delins 1.2E-04 0.700 1.000 1 2016 2016
dbSNP: rs104893879
rs104893879
1 1.000 0.320 4 6301739 stop gained G/A;C snv 4.0E-06; 4.0E-06 0.700 0
dbSNP: rs104893880
rs104893880
1 1.000 0.320 4 6291961 stop gained C/T snv 4.1E-06 0.700 0
dbSNP: rs104893881
rs104893881
1 1.000 0.320 4 6302250 stop gained C/G;T snv 0.700 0
dbSNP: rs1362648752
rs1362648752
1 1.000 0.320 4 6289078 frameshift variant -/GGCCGTCGCGAGGCTG delins 4.4E-05 2.8E-05 0.700 0
dbSNP: rs145639028
rs145639028
2 0.925 0.320 4 6289047 missense variant G/A snv 2.2E-05 1.4E-05 0.700 0
dbSNP: rs147974629
rs147974629
1 1.000 0.320 4 6301104 missense variant G/A;C;T snv 6.3E-04; 4.0E-06; 8.0E-06 0.700 0
dbSNP: rs199910987
rs199910987
1 1.000 0.320 4 6301405 missense variant G/A snv 1.0E-04; 4.0E-06 3.3E-04 0.700 0
dbSNP: rs28937890
rs28937890
1 1.000 0.320 4 6301966 missense variant C/T snv 3.2E-05 7.0E-05 0.700 0
dbSNP: rs28937891
rs28937891
1 1.000 0.320 4 6301879 missense variant G/A;T snv 4.8E-05; 8.0E-06 0.700 0
dbSNP: rs28937892
rs28937892
1 1.000 0.320 4 6301306 missense variant C/A;T snv 4.0E-06; 3.6E-05 0.700 0