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: rs148508754
rs148508754
4 0.882 0.120 11 36594065 missense variant C/A;G snv 4.0E-06; 4.0E-06 0.700 1.000 4 2001 2012
dbSNP: rs1204766339
rs1204766339
2 1.000 0.120 11 36592794 missense variant T/C;G snv 4.0E-06 0.700 1.000 2 2012 2015
dbSNP: rs1564995627
rs1564995627
2 1.000 0.120 11 36592812 missense variant A/T snv 0.700 1.000 2 2000 2002
dbSNP: rs116040763
rs116040763
1 6 3113257 missense variant C/T snv 5.6E-05 1.0E-04 0.700 1.000 1 2019 2019
dbSNP: rs121917895
rs121917895
3 0.925 0.120 11 36594046 missense variant G/A;C snv 2.8E-05 0.700 1.000 1 2001 2001
dbSNP: rs121917896
rs121917896
2 1.000 0.120 11 36593315 missense variant A/C snv 0.700 1.000 1 2001 2001
dbSNP: rs121917897
rs121917897
4 0.882 0.120 11 36594054 missense variant T/C snv 0.700 1.000 1 2001 2001
dbSNP: rs121918574
rs121918574
2 1.000 0.160 11 36593939 missense variant G/T snv 0.700 1.000 1 2008 2008
dbSNP: rs1561772403
rs1561772403
2 1.000 6 3104263 frameshift variant G/- del 0.700 1.000 1 2019 2019
dbSNP: rs1561780980
rs1561780980
1 6 3113125 missense variant G/A snv 0.700 1.000 1 2019 2019
dbSNP: rs1564995611
rs1564995611
2 1.000 0.120 11 36592803 missense variant C/T snv 0.700 1.000 1 2009 2009
dbSNP: rs1564997121
rs1564997121
2 1.000 0.120 11 36593699 missense variant C/A snv 0.700 1.000 1 2011 2011
dbSNP: rs1564997563
rs1564997563
1 11 36593983 missense variant G/T snv 0.700 1.000 1 2015 2015
dbSNP: rs374657927
rs374657927
1 6 3105753 stop gained C/A;G;T snv 4.0E-06; 1.0E-04 0.700 1.000 1 2019 2019
dbSNP: rs752183065
rs752183065
1 6 3113167 missense variant T/C snv 8.0E-06 0.700 1.000 1 2019 2019
dbSNP: rs754413772
rs754413772
2 1.000 0.120 11 36592849 missense variant T/G snv 0.700 1.000 1 2006 2006
dbSNP: rs762407838
rs762407838
2 1.000 0.120 11 36593951 missense variant C/T snv 4.0E-06 2.1E-05 0.700 1.000 1 2011 2011
dbSNP: rs773710101
rs773710101
2 1.000 0.120 11 36592840 missense variant C/A;T snv 4.0E-06 0.700 1.000 1 2011 2011
dbSNP: rs909264507
rs909264507
2 1.000 0.120 11 36593976 missense variant C/A;T snv 4.0E-06 0.700 1.000 1 2011 2011
dbSNP: rs1064793251
rs1064793251
1 11 36593630 missense variant G/T snv 0.700 0
dbSNP: rs1479328926
rs1479328926
1 11 36593586 missense variant A/C;G snv 4.0E-06 2.1E-05 0.700 0
dbSNP: rs1554947410
rs1554947410
1 11 36594167 start lost A/G snv 0.700 0
dbSNP: rs1564995660
rs1564995660
1 11 36592831 missense variant G/C snv 0.700 0