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: rs387906592
rs387906592
14 0.752 0.280 10 88941309 missense variant C/T snv 0.700 1.000 5 2009 2013
dbSNP: rs112602953
rs112602953
2 0.925 0.120 10 88943813 missense variant C/G;T snv 4.0E-06 0.700 1.000 3 2007 2012
dbSNP: rs112901682
rs112901682
2 0.925 0.120 10 88948816 missense variant G/A;C snv 0.700 1.000 2 2011 2011
dbSNP: rs121434526
rs121434526
3 0.882 0.120 10 88941794 missense variant G/A snv 7.0E-06 0.700 0
dbSNP: rs746972765
rs746972765
1 1.000 10 88941252 missense variant C/T snv 0.700 0
dbSNP: rs794728021
rs794728021
2 0.925 0.120 10 88948815 missense variant C/T snv 0.700 0
dbSNP: rs397516685
rs397516685
3 0.882 0.120 10 88939680 missense variant C/T snv 0.700 1.000 2 2009 2009
dbSNP: rs727502878
rs727502878
2 0.925 0.120 10 88939595 missense variant C/G snv 0.700 0
dbSNP: rs193922153
rs193922153
2 0.925 0.040 17 50189173 missense variant G/A snv 1.5E-04 1.8E-04 0.700 0
dbSNP: rs121912923
rs121912923
3 0.882 0.160 2 188996479 missense variant G/A;C;T snv 0.700 0
dbSNP: rs1553507180
rs1553507180
2 0.925 0.040 2 188988083 frameshift variant C/- delins 0.700 0
dbSNP: rs869312034
rs869312034
2 0.925 0.160 2 189006260 splice donor variant G/A;T snv 0.700 0
dbSNP: rs1553507867
rs1553507867
2 0.925 0.040 2 188994066 missense variant G/A snv 0.700 0
dbSNP: rs1554799402
rs1554799402
2 0.925 0.040 9 134785008 missense variant G/C snv 0.700 0
dbSNP: rs1553517181
rs1553517181
2 0.925 0.040 2 189084028 missense variant C/T snv 0.700 0
dbSNP: rs770974455
rs770974455
2 0.925 0.040 2 189045834 missense variant C/A;T snv 8.0E-06 0.700 0
dbSNP: rs727503057
rs727503057
16 0.708 0.280 15 48505106 missense variant G/A snv 7.0E-06 0.700 1.000 13 1973 2015
dbSNP: rs111401431
rs111401431
9 0.763 0.200 15 48468097 missense variant G/A snv 0.700 1.000 12 2000 2016
dbSNP: rs1555395663
rs1555395663
2 0.925 0.160 15 48444648 missense variant C/T snv 0.700 1.000 11 1973 2008
dbSNP: rs1555399968
rs1555399968
2 0.925 0.160 15 48508660 missense variant A/C snv 0.700 1.000 10 1973 2015
dbSNP: rs1566935517
rs1566935517
2 0.925 0.160 15 48600195 missense variant C/T snv 0.700 1.000 10 1973 2012
dbSNP: rs397515786
rs397515786
2 0.925 0.160 15 48488412 missense variant C/T snv 0.700 1.000 10 1973 2007
dbSNP: rs1064794282
rs1064794282
2 0.925 0.160 15 48497316 missense variant C/T snv 0.700 1.000 9 2002 2018
dbSNP: rs140593
rs140593
2 0.925 0.160 15 48489896 missense variant C/G;T snv 0.700 1.000 9 1995 2011
dbSNP: rs147195031
rs147195031
3 0.882 0.160 15 48420780 missense variant G/A snv 0.700 1.000 9 1973 2016