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: rs121908491
rs121908491
1 1.000 0.036 7 94618833 missense variant A/C snp 0.800 4 2002 2002
dbSNP: rs121908489
rs121908489
1 1.000 0.036 7 94628303 stop gained G/A,T snp 4.0E-06; 4.0E-06 0.700 4 2001 2017
dbSNP: rs121908490
rs121908490
1 1.000 0.036 7 94628288 stop gained G/A snp 0.700 4 2001 2017
dbSNP: rs863223283
rs863223283
1 1.000 0.036 7 94600844 frameshift variant CTTTGT/C in-del 0.700 4 1999 2017
dbSNP: rs121908492
rs121908492
1 1.000 0.036 7 94598914 stop gained G/A snp 0.700 2 2005 2017
dbSNP: rs372686312
rs372686312
1 1.000 0.036 7 94603303 missense variant C/T snp 4.0E-06 0.700 2 2006 2012
dbSNP: rs794727794
rs794727794
1 1.000 0.036 7 94603343 frameshift variant CAT/C in-del 0.700 2 2014 2017
dbSNP: rs398123812
rs398123812
1 1.000 0.036 7 94603406 stop gained G/A snp 0.700 1 2017 2017
dbSNP: rs863223284
rs863223284
1 1.000 0.036 7 94600798 frameshift variant T/TA in-del 0.700 1 2004 2004
dbSNP: rs863223285
rs863223285
1 1.000 0.036 7 94618800 frameshift variant CCT/C in-del 0.700 1 2006 2006
dbSNP: rs104894220
rs104894220
1 1.000 0.036 11 113416935 missense variant C/T snp 4.4E-05 6.4E-05 0.010 1.000 1 2000 2000
dbSNP: rs184841813
rs184841813
2 0.923 0.036 9 138058108 missense variant G/A snp 4.3E-04 4.5E-04 0.010 < 0.001 1 2016 2016
dbSNP: rs786205860
rs786205860
2 0.923 0.036 22 37057420 missense variant G/A snp 0.010 1.000 1 2015 2015
dbSNP: rs80358234
rs80358234
1 1.000 0.036 9 129814034 frameshift variant ACTCT/A in-del 4.0E-06 0.010 1.000 1 2009 2009