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: rs886052321
rs886052321
1 1.000 0.080 16 75478937 stop gained G/A snv 1.6E-05 0.700 1.000 2 2009 2010
dbSNP: rs72547536
rs72547536
1 1.000 0.080 16 75478838 stop gained G/A snv 0.010 1.000 1 2004 2004
dbSNP: rs121917822
rs121917822
1 1.000 0.080 16 75479525 missense variant A/C snv 8.0E-06 2.8E-05 0.800 1.000 17 2000 2015
dbSNP: rs121917824
rs121917824
1 1.000 0.080 16 75479002 missense variant A/G snv 5.7E-05 1.4E-05 0.810 1.000 17 2000 2015
dbSNP: rs142954809
rs142954809
1 1.000 0.080 16 75479374 missense variant A/C;G snv 1.2E-05 0.700 1.000 17 2000 2015
dbSNP: rs202175444
rs202175444
1 1.000 0.080 16 75479198 missense variant G/A snv 4.1E-06 0.710 1.000 17 2000 2015
dbSNP: rs370335460
rs370335460
1 1.000 0.080 16 75479677 missense variant G/A snv 4.0E-06 2.1E-05 0.700 1.000 17 2000 2015
dbSNP: rs68043642
rs68043642
1 1.000 0.080 16 75479764 missense variant A/C snv 0.700 1.000 17 2000 2015
dbSNP: rs759870075
rs759870075
1 1.000 0.080 16 75479218 missense variant G/C;T snv 8.3E-06 0.700 1.000 17 2000 2015
dbSNP: rs775742450
rs775742450
1 1.000 0.080 16 75479627 missense variant A/G snv 8.0E-06 0.700 1.000 17 2000 2015
dbSNP: rs28937879
rs28937879
2 0.925 0.080 16 75479230 missense variant A/C snv 2.2E-04 2.2E-04 0.820 1.000 10 2002 2014
dbSNP: rs28937877
rs28937877
1 1.000 0.080 16 75479308 missense variant T/C snv 0.800 1.000 3 2000 2015
dbSNP: rs119103229
rs119103229
2 0.925 0.120 21 36765170 missense variant G/A snv 2.8E-05 0.010 1.000 1 2003 2003
dbSNP: rs231775
rs231775
115 0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs376162109
rs376162109
1 1.000 0.080 16 75479272 missense variant G/C;T snv 1.6E-05; 3.6E-05 0.710 1.000 1 2011 2011
dbSNP: rs57218384
rs57218384
2 0.925 0.080 17 40866783 missense variant C/A;G snv 0.010 1.000 1 1997 1997
dbSNP: rs58038639
rs58038639
2 0.925 0.080 17 40866778 missense variant C/G snv 4.0E-06 0.010 1.000 1 2003 2003
dbSNP: rs58162394
rs58162394
2 0.925 0.080 17 40863154 missense variant A/C snv 0.010 1.000 1 1997 1997
dbSNP: rs58343600
rs58343600
2 0.925 0.080 17 40866760 missense variant C/A;G;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 1997 1997
dbSNP: rs587784505
rs587784505
3 0.882 0.160 16 89934743 missense variant G/A snv 0.010 1.000 1 2016 2016
dbSNP: rs58918655
rs58918655
2 0.925 0.080 17 40866768 missense variant A/C snv 0.010 1.000 1 1997 1997
dbSNP: rs59202432
rs59202432
2 0.925 0.080 17 40863153 missense variant T/C snv 0.010 1.000 1 2005 2005
dbSNP: rs60410063
rs60410063
2 0.925 0.080 12 52791233 missense variant C/A;G;T snv 4.0E-06; 1.2E-05 0.010 1.000 1 2005 2005
dbSNP: rs72547543
rs72547543
1 1.000 0.080 16 75479446 missense variant G/A snv 0.710 1.000 1 2006 2006
dbSNP: rs752785520
rs752785520
2 0.925 0.080 16 75479180 missense variant C/T snv 4.2E-06 0.710 1.000 1 2003 2003