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: 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: rs199946797
rs199946797
3 0.882 0.360 4 6301467 missense variant C/A;T snv 6.7E-04 0.800 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
dbSNP: rs369107336
rs369107336
1 1.000 0.320 4 6302164 stop gained C/A;G;T snv 3.3E-05; 1.9E-04 0.700 0
dbSNP: rs71524377
rs71524377
1 1.000 0.320 4 6301914 missense variant G/A;T snv 4.0E-05 0.700 0
dbSNP: rs71532864
rs71532864
1 1.000 0.320 4 6302001 missense variant G/A;C snv 3.3E-05; 4.1E-06 0.700 0
dbSNP: rs746923441
rs746923441
1 1.000 0.320 4 6300669 missense variant C/A;T snv 8.0E-06; 4.0E-06 0.700 0
dbSNP: rs777580652
rs777580652
1 1.000 0.320 4 6300668 stop gained C/G;T snv 4.0E-06; 1.2E-05 0.700 0
dbSNP: rs797046112
rs797046112
1 1.000 0.320 4 6301030 inframe deletion TTC/- delins 1.4E-05 0.700 0
dbSNP: rs797046113
rs797046113
1 1.000 0.320 4 6301484 inframe deletion CCTCTT/- delins 0.700 0
dbSNP: rs1801211
rs1801211
1 1.000 0.320 4 6301440 missense variant C/G;T snv 0.010 1.000 1 2006 2006
dbSNP: rs6311
rs6311
41 0.645 0.640 13 46897343 upstream gene variant C/T snv 0.40 0.010 1.000 1 2006 2006
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: 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