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 1 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 1 1999 2018
dbSNP: rs6265
rs6265
264 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
1 1.000 0.040 11 61807686 intron variant A/G;T snv 0.28 0.010 1.000 1 2009 2009
dbSNP: rs174575
rs174575
1 1.000 0.040 11 61834531 intron variant C/G snv 0.25 0.010 1.000 1 2009 2009
dbSNP: rs174583
rs174583
4 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
dbSNP: rs782172825
rs782172825
1 1.000 0.040 6 112061139 missense variant G/A snv 2.1E-05 0.010 < 0.001 1 2016 2016
dbSNP: rs869312907
rs869312907
2 0.925 0.040 12 47995910 missense variant C/T snv 0.010 1.000 1 2015 2015