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: rs137853264
rs137853264
1 1.000 0.160 X 54465522 missense variant C/T snv 0.800 1.000 4 2000 2011
dbSNP: rs28935497
rs28935497
1 1.000 0.160 X 54456233 missense variant C/T snv 0.800 1.000 4 2000 2011
dbSNP: rs137853265
rs137853265
2 0.925 0.200 X 54467901 missense variant C/T snv 7.9E-06 9.5E-06 0.710 1.000 1 2005 2005
dbSNP: rs1269514277
rs1269514277
1 1.000 0.160 X 54446267 stop gained G/A snv 0.700 0
dbSNP: rs137853266
rs137853266
2 0.925 0.160 X 54467796 missense variant C/A;T snv 0.700 0
dbSNP: rs137853267
rs137853267
2 0.925 0.200 X 54465797 missense variant T/C snv 0.700 0
dbSNP: rs1557189455
rs1557189455
1 1.000 0.160 X 54467883 missense variant G/A snv 0.700 0
dbSNP: rs1557189608
rs1557189608
1 1.000 0.160 X 54470224 frameshift variant -/A delins 0.700 0
dbSNP: rs1557191567
rs1557191567
1 1.000 0.160 X 54495155 frameshift variant -/A delins 0.700 0
dbSNP: rs1569541255
rs1569541255
1 1.000 0.160 X 54470172 frameshift variant -/G delins 0.700 0
dbSNP: rs387906718
rs387906718
1 1.000 0.160 X 54455497 stop gained G/A snv 0.700 0
dbSNP: rs756586058
rs756586058
2 1.000 0.160 X 54470715 frameshift variant G/-;GG delins 0.700 0
dbSNP: rs45463492
rs45463492
1 1.000 0.160 2 25161451 missense variant C/A;T snv 3.0E-05; 3.0E-05 0.020 1.000 2 1998 2006
dbSNP: rs758709668
rs758709668
2 0.925 0.200 18 13885082 missense variant C/A;T snv 4.0E-06; 3.2E-05 0.020 1.000 2 1998 2006
dbSNP: rs104894090
rs104894090
2 0.925 0.280 8 38146051 missense variant G/A snv 4.4E-05 2.8E-05 0.010 1.000 1 2009 2009
dbSNP: rs1265342534
rs1265342534
1 1.000 0.160 2 25161191 missense variant G/C snv 4.0E-06 0.010 1.000 1 2002 2002
dbSNP: rs1354286349
rs1354286349
1 1.000 0.160 8 38145969 missense variant A/G snv 4.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs28940892
rs28940892
3 0.882 0.200 18 13884758 missense variant T/C snv 0.010 1.000 1 2012 2012
dbSNP: rs752311616
rs752311616
1 1.000 0.160 8 38146039 missense variant G/A snv 4.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs768093045
rs768093045
2 0.925 0.200 18 13885212 missense variant C/G;T snv 1.6E-05 0.010 1.000 1 2002 2002
dbSNP: rs768299768
rs768299768
2 0.925 0.200 2 25161505 missense variant C/A;T snv 9.2E-06 0.010 1.000 1 2008 2008
dbSNP: rs775159616
rs775159616
1 1.000 0.160 2 25161311 missense variant C/T snv 4.3E-06; 3.0E-05 7.0E-06 0.010 1.000 1 2002 2002
dbSNP: rs775777341
rs775777341
1 1.000 0.160 18 13884822 missense variant C/G;T snv 4.0E-06; 8.0E-06 0.010 1.000 1 2002 2002
dbSNP: rs886039786
rs886039786
NNT
2 0.925 0.160 5 43619076 missense variant T/C snv 0.010 1.000 1 2013 2013