Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs713993050
rs713993050
1.000 0.160 X 153725514 frameshift variant -/C delins
CUI: C0162309
Disease: Adrenoleukodystrophy
Adrenoleukodystrophy
0.700 1.000 45 1981 2014
dbSNP: rs128624218
rs128624218
1.000 0.160 X 153726062 missense variant G/A snv
CUI: C0162309
Disease: Adrenoleukodystrophy
Adrenoleukodystrophy
0.800 1.000 32 1993 2016
dbSNP: rs128624224
rs128624224
1.000 0.160 X 153740155 missense variant C/G;T snv
CUI: C0162309
Disease: Adrenoleukodystrophy
Adrenoleukodystrophy
0.800 1.000 28 1993 2016
dbSNP: rs128624219
rs128624219
1.000 0.160 X 153736232 missense variant G/A snv
CUI: C0162309
Disease: Adrenoleukodystrophy
Adrenoleukodystrophy
0.800 1.000 27 1993 2016
dbSNP: rs886044777
rs886044777
1.000 0.160 X 153736196 missense variant G/A snv
CUI: C0162309
Disease: Adrenoleukodystrophy
Adrenoleukodystrophy
0.800 1.000 27 1993 2016
dbSNP: rs150346282
rs150346282
1.000 0.160 X 153743031 missense variant G/A snv
CUI: C0162309
Disease: Adrenoleukodystrophy
Adrenoleukodystrophy
0.800 1.000 25 1993 2016
dbSNP: rs1557054873
rs1557054873
1.000 0.160 X 153740711 missense variant G/A snv
CUI: C0162309
Disease: Adrenoleukodystrophy
Adrenoleukodystrophy
0.800 1.000 25 1993 2016
dbSNP: rs398123105
rs398123105
1.000 0.160 X 153740618 missense variant C/T snv
CUI: C0162309
Disease: Adrenoleukodystrophy
Adrenoleukodystrophy
0.810 1.000 25 1993 2016
dbSNP: rs398123106
rs398123106
1.000 0.160 X 153740710 missense variant C/T snv
CUI: C0162309
Disease: Adrenoleukodystrophy
Adrenoleukodystrophy
0.800 1.000 25 1993 2019
dbSNP: rs128624215
rs128624215
1.000 0.160 X 153736195 missense variant C/G;T snv
CUI: C0162309
Disease: Adrenoleukodystrophy
Adrenoleukodystrophy
0.800 1.000 24 1993 2016
dbSNP: rs201774661
rs201774661
1.000 0.160 X 153743022 missense variant T/A;C snv 1.3E-05; 3.8E-04
CUI: C0162309
Disease: Adrenoleukodystrophy
Adrenoleukodystrophy
0.800 1.000 24 1993 2016
dbSNP: rs398123102
rs398123102
1.000 0.160 X 153740156 missense variant G/A snv 5.5E-06
CUI: C0162309
Disease: Adrenoleukodystrophy
Adrenoleukodystrophy
0.810 1.000 23 1993 2016
dbSNP: rs128624223
rs128624223
0.925 0.160 X 153740147 missense variant C/T snv
CUI: C0162309
Disease: Adrenoleukodystrophy
Adrenoleukodystrophy
0.810 1.000 22 1993 2016
dbSNP: rs128624213
rs128624213
1.000 0.160 X 153726137 missense variant G/A snv
CUI: C0162309
Disease: Adrenoleukodystrophy
Adrenoleukodystrophy
0.800 1.000 21 1993 2016
dbSNP: rs128624214
rs128624214
1.000 0.160 X 153737214 missense variant C/G snv
CUI: C0162309
Disease: Adrenoleukodystrophy
Adrenoleukodystrophy
0.800 1.000 21 1993 2016
dbSNP: rs128624216
rs128624216
1.000 0.160 X 153725709 missense variant A/G snv
CUI: C0162309
Disease: Adrenoleukodystrophy
Adrenoleukodystrophy
0.800 1.000 21 1993 2016
dbSNP: rs128624217
rs128624217
1.000 0.160 X 153725786 missense variant T/G snv
CUI: C0162309
Disease: Adrenoleukodystrophy
Adrenoleukodystrophy
0.800 1.000 21 1993 2016
dbSNP: rs128624225
rs128624225
0.925 0.160 X 153743023 missense variant C/T snv 9.4E-06
CUI: C0162309
Disease: Adrenoleukodystrophy
Adrenoleukodystrophy
0.800 1.000 21 1993 2016
dbSNP: rs1557055398
rs1557055398
1.000 0.160 X 153743500 missense variant C/T snv
CUI: C0162309
Disease: Adrenoleukodystrophy
Adrenoleukodystrophy
0.700 1.000 21 1993 2016
dbSNP: rs201568579
rs201568579
1.000 0.160 X 153740600 missense variant G/A snv
CUI: C0162309
Disease: Adrenoleukodystrophy
Adrenoleukodystrophy
0.710 1.000 21 1993 2017
dbSNP: rs128624220
rs128624220
1.000 0.160 X 153736372 missense variant C/T snv
CUI: C0162309
Disease: Adrenoleukodystrophy
Adrenoleukodystrophy
0.800 1.000 20 1993 2016
dbSNP: rs201427153
rs201427153
1.000 0.160 X 153743258 missense variant G/A snv 9.4E-06
CUI: C0162309
Disease: Adrenoleukodystrophy
Adrenoleukodystrophy
0.700 1.000 20 1993 2016
dbSNP: rs782311214
rs782311214
1.000 0.160 X 153743575 missense variant C/T snv
CUI: C0162309
Disease: Adrenoleukodystrophy
Adrenoleukodystrophy
0.700 1.000 20 1993 2016
dbSNP: rs782760033
rs782760033
1.000 0.160 X 153726086 missense variant C/T snv 2.2E-05
CUI: C0162309
Disease: Adrenoleukodystrophy
Adrenoleukodystrophy
0.700 1.000 20 1993 2016
dbSNP: rs1569541203
rs1569541203
1.000 0.160 X 153743333 missense variant C/T snv
CUI: C0162309
Disease: Adrenoleukodystrophy
Adrenoleukodystrophy
0.700 1.000 15 1995 2014