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: rs786203457
rs786203457
1 1 161356815 missense variant A/G snv 7.0E-06 0.700 1.000 11 2009 2018
dbSNP: rs201286421
rs201286421
5 0.882 0.080 1 161323636 stop gained C/T snv 8.0E-06 2.1E-05 0.700 1.000 9 2008 2017
dbSNP: rs764575966
rs764575966
8 0.882 0.080 1 161356832 stop gained C/T snv 3.6E-05 7.0E-06 0.700 1.000 9 2007 2017
dbSNP: rs587778661
rs587778661
4 0.925 0.080 1 161328466 missense variant C/T snv 7.0E-06 0.700 1.000 7 2009 2016
dbSNP: rs755235380
rs755235380
3 1.000 0.080 1 161314406 start lost A/G snv 4.0E-06 1.4E-05 0.700 1.000 4 2005 2013
dbSNP: rs786205147
rs786205147
4 0.882 0.120 1 161340638 missense variant G/A;T snv 0.700 1.000 3 2009 2016
dbSNP: rs587776653
rs587776653
7 0.827 0.160 1 161356841 splice donor variant G/A;C;T snv 8.0E-06 0.700 1.000 2 2003 2005
dbSNP: rs1131691062
rs1131691062
1 1 161323612 splice acceptor variant A/G snv 0.700 1.000 1 2009 2009
dbSNP: rs898854295
rs898854295
2 1.000 0.080 1 161356812 missense variant A/G snv 2.8E-05 0.700 1.000 1 2005 2005
dbSNP: rs1057517818
rs1057517818
1 1 161328498 splice donor variant G/C snv 0.700 0
dbSNP: rs1553265817
rs1553265817
1 1 161356808 frameshift variant TATCATACCTGGAATG/- delins 0.700 0
dbSNP: rs786202200
rs786202200
3 1.000 0.080 1 161328395 splice acceptor variant G/A;T snv 7.0E-06 0.700 0
dbSNP: rs786205146
rs786205146
4 0.882 0.120 1 161314411 frameshift variant T/- del 0.700 0
dbSNP: rs867966048
rs867966048
2 1.000 0.080 1 161340637 missense variant G/A;C snv 0.700 0
dbSNP: rs876658301
rs876658301
1 1 161356810 frameshift variant -/T delins 0.700 0
dbSNP: rs981049067
rs981049067
1 1 161356822 stop gained G/A;C snv 0.700 0