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: rs1170974058
rs1170974058
ABCD1
1 1.000 0.160 X 153743495 stop gained C/A;T snv 2.8E-05 0.700 0
dbSNP: rs128624222
rs128624222
ABCD1
1 1.000 0.160 X 153737192 stop gained G/A;T snv 2.2E-05 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: rs1557052397
rs1557052397
ABCD1 ; BCAP31
1 1.000 0.160 X 153725801 frameshift variant -/CTACTACC delins 0.700 0
dbSNP: rs1557052530
rs1557052530
ABCD1 ; BCAP31
1 1.000 0.160 X 153726031 frameshift variant -/AACG delins 0.700 0
dbSNP: rs1557054210
rs1557054210
ABCD1
1 1.000 0.160 X 153736390 stop gained C/T snv 0.700 0
dbSNP: rs1557054745
rs1557054745
ABCD1
1 1.000 0.160 X 153740135 missense variant G/A snv 0.700 0
dbSNP: rs1557054875
rs1557054875
ABCD1
1 1.000 0.160 X 153740721 splice donor variant T/G snv 0.700 0
dbSNP: rs1557055253
rs1557055253
ABCD1
1 1.000 0.160 X 153743024 frameshift variant GTGG/- delins 0.700 0
dbSNP: rs1557055316
rs1557055316
ABCD1
1 1.000 0.160 X 153743231 missense variant G/A snv 0.700 0
dbSNP: rs1557055337
rs1557055337
ABCD1
1 1.000 0.160 X 153743328 missense variant C/T snv 0.700 0
dbSNP: rs1557055392
rs1557055392
ABCD1
1 1.000 0.160 X 153743494 frameshift variant -/GC delins 0.700 0
dbSNP: rs1569540676
rs1569540676
ABCD1 ; BCAP31
1 1.000 0.160 X 153725411 frameshift variant CCGCCGGGGAGCCC/- delins 0.700 0
dbSNP: rs1569540688
rs1569540688
ABCD1 ; BCAP31
4 0.925 0.240 X 153725586 missense variant T/C snv 0.700 0
dbSNP: rs1569540693
rs1569540693
ABCD1 ; BCAP31
1 1.000 0.160 X 153725720 missense variant C/T 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: rs1569541000
rs1569541000
ABCD1
1 1.000 0.160 X 153736126 stop gained A/T snv 0.700 0
dbSNP: rs1569541009
rs1569541009
ABCD1
1 1.000 0.160 X 153736336 splice acceptor variant CCCTCAGGTGACGGAGCTGGCT/- delins 0.700 0
dbSNP: rs1569541096
rs1569541096
ABCD1
1 1.000 0.160 X 153740238 splice donor variant G/A snv 0.700 0
dbSNP: rs1569541109
rs1569541109
ABCD1
1 1.000 0.160 X 153740572 splice acceptor variant A/G snv 0.700 0
dbSNP: rs1569541115
rs1569541115
ABCD1
1 1.000 0.160 X 153740598 frameshift variant -/C delins 0.700 0
dbSNP: rs1569541198
rs1569541198
ABCD1
1 1.000 0.160 X 153743072 splice donor variant G/A snv 0.700 0
dbSNP: rs1569541207
rs1569541207
ABCD1
1 1.000 0.160 X 153743506 frameshift variant -/G delins 0.700 0
dbSNP: rs193922093
rs193922093
ABCD1
1 1.000 0.160 X 153736484 frameshift variant -/C delins 0.700 0