Source: BEFREE

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: rs128624223
rs128624223
ABCD1
0.925 0.160 X 153740147 missense variant C/T snv
CUI: C0162309
Disease: Adrenoleukodystrophy
Adrenoleukodystrophy 		0.810 1.000 1 1993 2016
dbSNP: rs398123102
rs398123102
ABCD1
1.000 0.160 X 153740156 missense variant G/A snv 5.5E-06
CUI: C0162309
Disease: Adrenoleukodystrophy
Adrenoleukodystrophy 		0.810 1.000 1 1993 2016
dbSNP: rs398123105
rs398123105
ABCD1
1.000 0.160 X 153740618 missense variant C/T snv
CUI: C0162309
Disease: Adrenoleukodystrophy
Adrenoleukodystrophy 		0.810 1.000 1 1993 2016
dbSNP: rs201568579
rs201568579
ABCD1
1.000 0.160 X 153740600 missense variant G/A snv
CUI: C0162309
Disease: Adrenoleukodystrophy
Adrenoleukodystrophy 		0.710 1.000 1 1993 2017