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: rs199472944
rs199472944
3 0.882 0.120 7 150951552 missense variant G/A snv 0.700 1.000 30 1997 2015
dbSNP: rs199472815
rs199472815
4 0.851 0.120 11 2778024 missense variant G/A;C snv 2.0E-05 0.700 1.000 16 2000 2014
dbSNP: rs199473456
rs199473456
3 0.882 0.120 11 2571394 missense variant C/T snv 1.2E-05 0.700 1.000 15 1999 2015
dbSNP: rs199472957
rs199472957
3 0.882 0.120 7 150951507 missense variant T/A;C;G snv 0.700 1.000 14 1998 2016
dbSNP: rs199473522
rs199473522
3 0.882 0.120 7 150951583 missense variant C/T snv 0.710 1.000 14 1999 2014
dbSNP: rs120074193
rs120074193
7 0.807 0.120 11 2572870 missense variant G/A;C snv 4.0E-06 0.700 1.000 13 1997 2015
dbSNP: rs199473487
rs199473487
2 0.925 0.120 7 150974920 missense variant T/G snv 0.700 1.000 13 1999 2017
dbSNP: rs199473524
rs199473524
2 0.925 0.120 7 150951555 missense variant G/A snv 0.700 1.000 13 1999 2015
dbSNP: rs120074189
rs120074189
4 0.851 0.120 11 2778003 missense variant C/T snv 0.720 0.917 12 1998 2019
dbSNP: rs199472719
rs199472719
3 0.882 0.120 11 2572104 missense variant C/T snv 4.1E-06 0.700 1.000 12 2000 2015
dbSNP: rs199472795
rs199472795
6 0.807 0.120 11 2775984 missense variant C/T snv 7.0E-06 0.710 1.000 12 2000 2015
dbSNP: rs199473480
rs199473480
2 0.925 0.120 11 2776006 stop gained C/A;T snv 0.710 1.000 12 2004 2016
dbSNP: rs74315445
rs74315445
6 0.807 0.120 21 34449409 missense variant C/T snv 6.8E-05 5.3E-05 0.710 1.000 12 1997 2014
dbSNP: rs120074179
rs120074179
3 0.925 0.120 11 2572089 missense variant G/A;C;T snv 0.710 1.000 11 1996 2012
dbSNP: rs120074190
rs120074190
3 0.882 0.120 11 2778009 missense variant G/A snv 4.8E-05 5.6E-05 0.730 1.000 11 1999 2017
dbSNP: rs199473411
rs199473411
3 0.882 0.120 11 2585275 missense variant C/A;T snv 0.700 1.000 11 1997 2015
dbSNP: rs1060500621
rs1060500621
1 1.000 0.120 11 2572846 missense variant GA/TT mnv 0.700 1.000 10 1999 2016
dbSNP: rs199472845
rs199472845
2 0.925 0.120 7 150974851 missense variant C/A;T snv 0.710 1.000 10 1999 2015
dbSNP: rs121912507
rs121912507
4 0.882 0.120 7 150951511 missense variant C/G;T snv 0.710 1.000 9 1995 2013
dbSNP: rs199472756
rs199472756
3 0.925 0.120 11 2583486 missense variant G/A snv 0.710 1.000 9 2009 2016
dbSNP: rs199472776
rs199472776
3 0.882 0.120 11 2587630 missense variant C/G;T snv 4.0E-06; 2.0E-04 0.710 1.000 9 2007 2015
dbSNP: rs199472805
rs199472805
2 0.925 0.120 11 2777000 missense variant T/C;G snv 0.700 1.000 9 2005 2015
dbSNP: rs199472916
rs199472916
2 0.925 0.120 7 150951793 missense variant G/A;T snv 0.710 1.000 9 1998 2019
dbSNP: rs199472936
rs199472936
5 0.882 0.120 7 150951592 missense variant C/A;T snv 0.700 1.000 9 1998 2015
dbSNP: rs199473419
rs199473419
2 0.925 0.120 7 150974809 missense variant T/C snv 0.700 1.000 9 1999 2014