Source: ALL
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: rs797044610
rs797044610
ABCD1 ; BCAP31
1 1.000 0.160 X 153726153 missense variant A/C;G snv 0.800 1.000 5 1999 2006
dbSNP: rs1131691743
rs1131691743
ABCD1 ; BCAP31
1 1.000 0.160 X 153726027 missense variant C/T snv 0.800 1.000 3 1996 2013
dbSNP: rs1131691916
rs1131691916
ABCD1 ; BCAP31
1 1.000 0.160 X 153725831 missense variant C/T snv 0.800 1.000 3 2000 2012
dbSNP: rs1557052294
rs1557052294
ABCD1 ; BCAP31
1 1.000 0.160 X 153725559 missense variant C/T snv 0.800 1.000 3 1996 2012
dbSNP: rs193922098
rs193922098
ABCD1 ; BCAP31
1 1.000 0.160 X 153726104 missense variant C/A;G;T snv 7.8E-06; 1.6E-05 0.800 1.000 3 2001 2012
dbSNP: rs1557055405
rs1557055405
ABCD1
21 0.807 0.400 X 153743532 missense variant T/A snv 0.800 1.000 2 1998 2012
dbSNP: rs1064793877
rs1064793877
ABCD1
1 1.000 0.160 X 153743250 missense variant C/T snv 0.800 1.000 1 2012 2012
dbSNP: rs193922097
rs193922097
ABCD1 ; BCAP31
1 1.000 0.160 X 153725687 missense variant G/A snv 0.800 1.000 1 2012 2012
dbSNP: rs201568579
rs201568579
ABCD1
1 1.000 0.160 X 153740600 missense variant G/A snv 0.710 1.000 21 1993 2017
dbSNP: rs713993050
rs713993050
ABCD1 ; BCAP31
1 1.000 0.160 X 153725514 frameshift variant -/C delins 0.700 1.000 45 1981 2014
dbSNP: rs1557055398
rs1557055398
ABCD1
1 1.000 0.160 X 153743500 missense variant C/T snv 0.700 1.000 21 1993 2016
dbSNP: rs201427153
rs201427153
ABCD1
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
ABCD1
1 1.000 0.160 X 153743575 missense variant C/T snv 0.700 1.000 20 1993 2016
dbSNP: rs782760033
rs782760033
ABCD1 ; BCAP31
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
ABCD1
1 1.000 0.160 X 153743333 missense variant C/T snv 0.700 1.000 15 1995 2014
dbSNP: rs387906494
rs387906494
ABCD1
1 1.000 0.160 X 153737178 frameshift variant AG/- del 0.700 1.000 8 1994 2013
dbSNP: rs1557052362
rs1557052362
ABCD1 ; BCAP31
1 1.000 0.160 X 153725708 missense variant A/T snv 0.700 1.000 4 1994 2005
dbSNP: rs1569541088
rs1569541088
ABCD1
1 1.000 0.160 X 153740137 missense variant G/A snv 0.700 1.000 4 1996 2012
dbSNP: rs1557055340
rs1557055340
ABCD1
1 1.000 0.160 X 153743334 missense variant G/A;T snv 0.700 1.000 2 2011 2011
dbSNP: rs1569540704
rs1569540704
ABCD1 ; BCAP31
1 1.000 0.160 X 153725859 missense variant C/T snv 0.700 1.000 2 2001 2012
dbSNP: rs781862879
rs781862879
ABCD1
1 1.000 0.160 X 153740200 missense variant A/C snv 5.5E-06 9.4E-06 0.700 1.000 2 2012 2012
dbSNP: rs1131691954
rs1131691954
ABCD1 ; BCAP31
1 1.000 0.160 X 153726146 missense variant G/A snv 0.700 1.000 1 2012 2012
dbSNP: rs128624221
rs128624221
ABCD1
1 1.000 0.160 X 153736510 stop gained C/T snv 0.700 1.000 1 1994 1994
dbSNP: rs1557055311
rs1557055311
ABCD1
5 0.882 0.200 X 153743220 splice acceptor variant G/A;C snv 0.700 1.000 1 2001 2001
dbSNP: rs1569540665
rs1569540665
ABCD1 ; BCAP31
1 1.000 0.160 X 153725346 missense variant A/C snv 0.700 1.000 1 2011 2011