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: rs713993050
rs713993050
1 1.000 0.160 X 153725514 frameshift variant -/C delins 0.700 1.000 45 1981 2014
dbSNP: rs128624218
rs128624218
1 1.000 0.160 X 153726062 missense variant G/A snv 0.800 1.000 32 1993 2016
dbSNP: rs128624224
rs128624224
1 1.000 0.160 X 153740155 missense variant C/G;T snv 0.800 1.000 28 1993 2016
dbSNP: rs128624219
rs128624219
1 1.000 0.160 X 153736232 missense variant G/A snv 0.800 1.000 27 1993 2016
dbSNP: rs886044777
rs886044777
1 1.000 0.160 X 153736196 missense variant G/A snv 0.800 1.000 27 1993 2016
dbSNP: rs150346282
rs150346282
1 1.000 0.160 X 153743031 missense variant G/A snv 0.800 1.000 25 1993 2016
dbSNP: rs1557054873
rs1557054873
1 1.000 0.160 X 153740711 missense variant G/A snv 0.800 1.000 25 1993 2016
dbSNP: rs398123105
rs398123105
1 1.000 0.160 X 153740618 missense variant C/T snv 0.810 1.000 25 1993 2016
dbSNP: rs398123106
rs398123106
1 1.000 0.160 X 153740710 missense variant C/T snv 0.800 1.000 25 1993 2019
dbSNP: rs128624215
rs128624215
1 1.000 0.160 X 153736195 missense variant C/G;T snv 0.800 1.000 24 1993 2016
dbSNP: rs201774661
rs201774661
1 1.000 0.160 X 153743022 missense variant T/A;C snv 1.3E-05; 3.8E-04 0.800 1.000 24 1993 2016
dbSNP: rs398123102
rs398123102
1 1.000 0.160 X 153740156 missense variant G/A snv 5.5E-06 0.810 1.000 23 1993 2016
dbSNP: rs128624223
rs128624223
2 0.925 0.160 X 153740147 missense variant C/T snv 0.810 1.000 22 1993 2016
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: 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: 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: rs1569541203
rs1569541203
1 1.000 0.160 X 153743333 missense variant C/T snv 0.700 1.000 15 1995 2014
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