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: rs61755781
rs61755781
4 0.851 0.080 6 42721913 missense variant T/C snv 0.800 1.000 1 2012 2012
dbSNP: rs121918564
rs121918564
1 1.000 0.080 6 42704419 stop gained G/T snv 0.710 1.000 1 1997 1997
dbSNP: rs61755798
rs61755798
6 0.827 0.080 6 42704564 missense variant G/A;C snv 0.710 1.000 1 2006 2006
dbSNP: rs61748432
rs61748432
1 1.000 0.080 6 42698422 missense variant C/T snv 0.700 1.000 5 1997 2016
dbSNP: rs61755801
rs61755801
1 1.000 0.080 6 42704558 missense variant C/G snv 0.700 1.000 5 1997 2016
dbSNP: rs121918565
rs121918565
1 1.000 0.080 6 42722333 start lost A/G snv 0.700 0
dbSNP: rs121918566
rs121918566
1 1.000 0.080 6 42698389 stop gained C/T snv 0.700 0
dbSNP: rs1554269071
rs1554269071
1 1.000 0.080 6 42704557 missense variant G/C snv 0.700 0
dbSNP: rs1562434117
rs1562434117
1 1.000 0.080 6 42722018 frameshift variant CA/- delins 0.700 0
dbSNP: rs61755769
rs61755769
1 1.000 0.080 6 42722222 frameshift variant C/- delins 0.700 0
dbSNP: rs61755770
rs61755770
2 0.925 0.080 6 42722202 missense variant G/A snv 1.1E-03 4.1E-03 0.700 0
dbSNP: rs62645936
rs62645936
1 1.000 0.080 6 42704391 missense variant C/A;G;T snv 8.3E-06; 1.7E-05 0.700 0
dbSNP: rs753657349
rs753657349
2 0.925 0.080 6 42704568 missense variant C/A;T snv 2.0E-05 2.1E-05 0.700 0
dbSNP: rs28940278
rs28940278
2 0.925 0.080 11 61951946 missense variant G/A snv 1.6E-05 0.010 1.000 1 2016 2016
dbSNP: rs61755800
rs61755800
3 0.882 0.080 6 42704559 missense variant T/C;G snv 8.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs886039311
rs886039311
2 0.925 0.080 11 61959504 missense variant G/A;C snv 0.010 1.000 1 2016 2016