Gene: ABCD1 ×
Source: CURATED ×
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: rs387906497
rs387906497
ABCD1 ; BCAP31
1 1.000 0.160 X 153725249 start lost AGCCAGCCCAGGTGACATGCCGGTGC/- delins 0.700 0
dbSNP: rs1557052133
rs1557052133
ABCD1 ; BCAP31
1 1.000 0.160 X 153725282 frameshift variant AGGCCCC/CT delins 0.700 0
dbSNP: rs1557052171
rs1557052171
ABCD1 ; BCAP31
1 1.000 0.160 X 153725334 frameshift variant C/- delins 0.700 0
dbSNP: rs1569540665
rs1569540665
ABCD1 ; BCAP31
1 1.000 0.160 X 153725346 missense variant A/C snv 0.700 1.000 1 2011 2011
dbSNP: rs1569540676
rs1569540676
ABCD1 ; BCAP31
1 1.000 0.160 X 153725411 frameshift variant CCGCCGGGGAGCCC/- delins 0.700 0
dbSNP: rs713993050
rs713993050
ABCD1 ; BCAP31
1 1.000 0.160 X 153725514 frameshift variant -/C delins 0.700 1.000 45 1981 2014
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: rs1557052302
rs1557052302
ABCD1 ; BCAP31
1 1.000 0.160 X 153725577 missense variant G/A snv 0.800 1.000 9 1995 2015
dbSNP: rs1569540688
rs1569540688
ABCD1 ; BCAP31
4 0.925 0.240 X 153725586 missense variant T/C snv 0.700 0
dbSNP: rs398123110
rs398123110
ABCD1 ; BCAP31
1 1.000 0.160 X 153725612 missense variant G/A snv 0.700 0
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: rs1557052362
rs1557052362
ABCD1 ; BCAP31
1 1.000 0.160 X 153725708 missense variant A/T snv 0.700 1.000 4 1994 2005
dbSNP: rs128624216
rs128624216
ABCD1 ; BCAP31
1 1.000 0.160 X 153725709 missense variant A/G snv 0.800 1.000 21 1993 2016
dbSNP: rs1569540693
rs1569540693
ABCD1 ; BCAP31
1 1.000 0.160 X 153725720 missense variant C/T snv 0.700 0
dbSNP: rs1569540695
rs1569540695
ABCD1 ; BCAP31
1 1.000 0.160 X 153725753 missense variant C/T snv 0.700 1.000 1 2016 2016
dbSNP: rs1057517954
rs1057517954
ABCD1 ; BCAP31
1 1.000 0.160 X 153725754 missense variant G/A snv 0.800 1.000 5 1995 2016
dbSNP: rs128624217
rs128624217
ABCD1 ; BCAP31
1 1.000 0.160 X 153725786 missense variant T/G snv 0.800 1.000 21 1993 2016
dbSNP: rs1557052390
rs1557052390
ABCD1 ; BCAP31
1 1.000 0.160 X 153725787 missense variant A/G snv 0.800 1.000 9 1994 2014
dbSNP: rs1557052397
rs1557052397
ABCD1 ; BCAP31
1 1.000 0.160 X 153725801 frameshift variant -/CTACTACC delins 0.700 0
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: rs1569540704
rs1569540704
ABCD1 ; BCAP31
1 1.000 0.160 X 153725859 missense variant C/T snv 0.700 1.000 2 2001 2012
dbSNP: rs864309520
rs864309520
ABCD1 ; BCAP31
2 1.000 0.160 X 153725917 missense variant G/C snv 0.700 0
dbSNP: rs1569540710
rs1569540710
ABCD1 ; BCAP31
1 1.000 0.160 X 153725919 missense variant C/T snv 0.700 0
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: rs1557052530
rs1557052530
ABCD1 ; BCAP31
1 1.000 0.160 X 153726031 frameshift variant -/AACG delins 0.700 0