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: rs530318579
rs530318579
6 0.807 0.080 1 179559710 missense variant C/T snv 1.4E-05 0.800 1.000 24 2000 2015
dbSNP: rs74315348
rs74315348
2 0.925 0.080 1 179552605 missense variant G/A;C snv 2.0E-05; 4.0E-06 0.800 1.000 22 2000 2015
dbSNP: rs786204583
rs786204583
2 0.925 0.080 1 179559711 missense variant G/A snv 0.800 1.000 16 2000 2015
dbSNP: rs1214047676
rs1214047676
1 1.000 0.080 1 179551304 missense variant G/A snv 0.700 1.000 14 2000 2015
dbSNP: rs12240233
rs12240233
1 1.000 0.080 1 179561315 missense variant A/G snv 0.700 1.000 14 2000 2015
dbSNP: rs74315345
rs74315345
2 0.925 0.080 1 179575591 missense variant C/A;G;T snv 0.800 1.000 14 2000 2015
dbSNP: rs74315346
rs74315346
2 0.925 0.080 1 179559734 missense variant T/A;C snv 0.800 1.000 14 2000 2015
dbSNP: rs776859868
rs776859868
1 1.000 0.080 1 179551360 missense variant C/A;G;T snv 4.0E-06; 1.6E-05; 2.0E-05 0.700 1.000 14 2000 2015
dbSNP: rs199506378
rs199506378
2 0.925 0.080 1 179551435 missense variant G/A;T snv 4.0E-06 0.700 1.000 7 2002 2015
dbSNP: rs528833893
rs528833893
2 0.925 0.080 1 179559746 frameshift variant A/-;AA delins 0.700 1.000 7 2004 2017
dbSNP: rs775170915
rs775170915
2 0.925 0.080 1 179551377 frameshift variant A/- del 1.2E-05 0.700 1.000 6 2004 2013
dbSNP: rs1490010141
rs1490010141
2 0.925 0.080 1 179552614 missense variant C/T snv 4.0E-06 0.700 1.000 5 2002 2015
dbSNP: rs2032582
rs2032582
97 0.538 0.800 7 87531302 missense variant A/C;T snv 0.54; 3.8E-02 0.030 1.000 3 2015 2017
dbSNP: rs1045642
rs1045642
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.020 1.000 2 2015 2017
dbSNP: rs12568913
rs12568913
2 0.925 0.080 1 179557179 stop gained G/A;C;T snv 1.2E-05; 8.0E-06 0.700 1.000 2 2001 2005
dbSNP: rs1553312833
rs1553312833
2 0.925 0.080 1 179552602 splice donor variant C/T snv 0.700 1.000 2 2013 2014
dbSNP: rs762631237
rs762631237
2 0.925 0.080 1 179564689 splice donor variant C/T snv 8.0E-06 0.700 1.000 2 2008 2015
dbSNP: rs786204708
rs786204708
2 0.925 0.080 1 179561287 splice donor variant A/T snv 0.700 1.000 2 2004 2014
dbSNP: rs1057516414
rs1057516414
2 0.925 0.080 1 179557080 stop gained G/A;T snv 8.0E-06 0.700 1.000 1 2014 2014
dbSNP: rs1553316575
rs1553316575
2 0.925 0.080 1 179575616 frameshift variant C/- del 0.700 1.000 1 2014 2014
dbSNP: rs1801274
rs1801274
46 0.597 0.800 1 161509955 missense variant A/C;G snv 4.0E-06; 0.48 0.010 1.000 1 2018 2018
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: rs747126003
rs747126003
18 0.689 0.400 7 22728790 missense variant A/G;T snv 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs755972674
rs755972674
2 0.925 0.080 1 179561355 stop gained G/A snv 8.0E-06 0.700 1.000 1 2015 2015
dbSNP: rs763818901
rs763818901
2 0.925 0.080 1 179551361 stop gained G/A;C snv 4.0E-06 0.700 1.000 1 2004 2004