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: rs128624213
rs128624213
1 1.000 0.160 X 153726137 missense variant G/A snv 0.800 1.000 21 1993 2016
dbSNP: rs128624214
rs128624214
1 1.000 0.160 X 153737214 missense variant C/G snv 0.800 1.000 21 1993 2016
dbSNP: rs128624216
rs128624216
1 1.000 0.160 X 153725709 missense variant A/G snv 0.800 1.000 21 1993 2016
dbSNP: rs128624217
rs128624217
1 1.000 0.160 X 153725786 missense variant T/G snv 0.800 1.000 21 1993 2016
dbSNP: rs128624225
rs128624225
2 0.925 0.160 X 153743023 missense variant C/T snv 9.4E-06 0.800 1.000 21 1993 2016
dbSNP: rs1557055398
rs1557055398
1 1.000 0.160 X 153743500 missense variant C/T snv 0.700 1.000 21 1993 2016
dbSNP: rs201568579
rs201568579
1 1.000 0.160 X 153740600 missense variant G/A snv 0.710 1.000 21 1993 2017
dbSNP: rs128624220
rs128624220
1 1.000 0.160 X 153736372 missense variant C/T snv 0.800 1.000 20 1993 2016
dbSNP: rs201427153
rs201427153
1 1.000 0.160 X 153743258 missense variant G/A snv 9.4E-06 0.700 1.000 20 1993 2016
dbSNP: rs782311214
rs782311214
1 1.000 0.160 X 153743575 missense variant C/T snv 0.700 1.000 20 1993 2016
dbSNP: rs782760033
rs782760033
1 1.000 0.160 X 153726086 missense variant C/T snv 2.2E-05 0.700 1.000 20 1993 2016
dbSNP: rs4010613
rs4010613
1 1.000 0.160 X 153743055 missense variant C/A;T snv 0.800 1.000 12 1994 2012
dbSNP: rs11146842
rs11146842
1 1.000 0.160 X 153743056 missense variant G/A snv 0.800 1.000 10 1994 2015
dbSNP: rs1557052390
rs1557052390
1 1.000 0.160 X 153725787 missense variant A/G snv 0.800 1.000 9 1994 2014
dbSNP: rs387906494
rs387906494
1 1.000 0.160 X 153737178 frameshift variant AG/- del 0.700 1.000 8 1994 2013
dbSNP: rs1557052362
rs1557052362
1 1.000 0.160 X 153725708 missense variant A/T snv 0.700 1.000 4 1994 2005
dbSNP: rs128624221
rs128624221
1 1.000 0.160 X 153736510 stop gained C/T snv 0.700 1.000 1 1994 1994
dbSNP: rs1569541203
rs1569541203
1 1.000 0.160 X 153743333 missense variant C/T snv 0.700 1.000 15 1995 2014
dbSNP: rs1557052302
rs1557052302
1 1.000 0.160 X 153725577 missense variant G/A snv 0.800 1.000 9 1995 2015
dbSNP: rs1557055260
rs1557055260
1 1.000 0.160 X 153743032 missense variant A/G snv 0.800 1.000 6 1995 2012
dbSNP: rs1057517954
rs1057517954
1 1.000 0.160 X 153725754 missense variant G/A snv 0.800 1.000 5 1995 2016
dbSNP: rs1569541088
rs1569541088
1 1.000 0.160 X 153740137 missense variant G/A snv 0.700 1.000 4 1996 2012
dbSNP: rs1131691743
rs1131691743
1 1.000 0.160 X 153726027 missense variant C/T snv 0.800 1.000 3 1996 2013
dbSNP: rs1557052294
rs1557052294
1 1.000 0.160 X 153725559 missense variant C/T snv 0.800 1.000 3 1996 2012
dbSNP: rs1557054776
rs1557054776
1 1.000 0.160 X 153740231 missense variant C/T snv 0.800 1.000 9 1997 2016