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: rs121908903
rs121908903
1 1.000 0.040 6 112069555 missense variant T/C snv 0.810 0.909 11 1999 2018
dbSNP: rs121908899
rs121908899
1 1.000 0.040 6 112064842 missense variant G/A;C snv 0.800 1.000 10 1999 2018
dbSNP: rs121908902
rs121908902
1 1.000 0.040 6 112061174 missense variant T/C snv 0.800 1.000 10 1999 2018
dbSNP: rs782813346
rs782813346
1 1.000 0.040 6 112068282 missense variant T/C;G snv 1.2E-05 7.0E-06 0.710 1.000 10 1999 2018
dbSNP: rs121908901
rs121908901
1 1.000 0.040 6 112061098 stop gained C/A;T snv 4.0E-05; 4.0E-06 2.1E-05 0.700 1.000 5 1999 2018
dbSNP: rs727503755
rs727503755
1 1.000 0.040 6 112068352 frameshift variant GT/- delins 8.0E-06 7.0E-06 0.700 1.000 4 1999 2012
dbSNP: rs1562595388
rs1562595388
1 1.000 0.040 6 112061175 missense variant G/A snv 0.700 1.000 3 2012 2015
dbSNP: rs781986930
rs781986930
2 1.000 0.040 6 112069565 missense variant G/A;C snv 4.0E-06; 4.0E-06 0.700 1.000 3 2012 2016
dbSNP: rs121908900
rs121908900
1 1.000 0.040 6 112069548 stop gained G/A snv 4.0E-06 0.700 0
dbSNP: rs1562599153
rs1562599153
1 1.000 0.040 6 112068307 frameshift variant T/- del 0.700 0
dbSNP: rs781838640
rs781838640
1 1.000 0.040 6 112069421 frameshift variant AG/- delins 0.700 0
dbSNP: rs797044438
rs797044438
1 1.000 0.040 6 112061188 frameshift variant A/- del 0.700 0
dbSNP: rs797044439
rs797044439
1 1.000 0.040 6 112054406 splice donor variant -/T delins 0.700 0
dbSNP: rs797044440
rs797044440
1 1.000 0.040 6 112069393 frameshift variant T/- delins 0.700 0
dbSNP: rs863223286
rs863223286
1 1.000 0.040 6 112069416 frameshift variant -/AC delins 4.8E-05 0.700 0
dbSNP: rs879255273
rs879255273
7 0.925 0.040 6 112064998 splice donor variant G/A snv 0.700 0
dbSNP: rs6265
rs6265
272 0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15 0.020 1.000 2 2010 2011
dbSNP: rs759834365
rs759834365
237 0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05 0.020 1.000 2 2010 2011
dbSNP: rs1480620991
rs1480620991
2 0.925 0.040 12 47984580 missense variant C/G snv 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs174553
rs174553
2 1.000 0.040 11 61807686 intron variant A/G;T snv 0.28 0.010 1.000 1 2009 2009
dbSNP: rs174575
rs174575
3 1.000 0.040 11 61834531 intron variant C/G snv 0.25 0.010 1.000 1 2009 2009
dbSNP: rs174583
rs174583
16 0.807 0.320 11 61842278 intron variant C/T snv 0.35 0.010 1.000 1 2009 2009
dbSNP: rs2070951
rs2070951
9 0.776 0.320 4 148436862 splice region variant G/A;C snv 4.2E-06; 0.53 0.010 1.000 1 2019 2019
dbSNP: rs4680
rs4680
249 0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 0.010 1.000 1 2011 2011
dbSNP: rs53576
rs53576
42 0.641 0.320 3 8762685 intron variant A/G;T snv 0.010 1.000 1 2019 2019