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: rs128624223
rs128624223
ABCD1
0.925 0.160 X 153740147 missense variant C/T snv
CUI: C1527231
Disease: Adrenomyeloneuropathy
Adrenomyeloneuropathy 		0.010 1.000 1 1995 1995
dbSNP: rs713993050
rs713993050
ABCD1 ; BCAP31
1.000 0.160 X 153725514 frameshift variant -/C delins
CUI: C0162309
Disease: Adrenoleukodystrophy
Adrenoleukodystrophy 		0.700 1.000 45 1981 2014
dbSNP: rs1557055398
rs1557055398
ABCD1
1.000 0.160 X 153743500 missense variant C/T snv
CUI: C0162309
Disease: Adrenoleukodystrophy
Adrenoleukodystrophy 		0.700 1.000 21 1993 2016
dbSNP: rs201427153
rs201427153
ABCD1
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
ABCD1
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
ABCD1 ; BCAP31
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
ABCD1
1.000 0.160 X 153743333 missense variant C/T snv
CUI: C0162309
Disease: Adrenoleukodystrophy
Adrenoleukodystrophy 		0.700 1.000 15 1995 2014
dbSNP: rs387906494
rs387906494
ABCD1
1.000 0.160 X 153737178 frameshift variant AG/- del
CUI: C0162309
Disease: Adrenoleukodystrophy
Adrenoleukodystrophy 		0.700 1.000 8 1994 2013
dbSNP: rs1557052362
rs1557052362
ABCD1 ; BCAP31
1.000 0.160 X 153725708 missense variant A/T snv
CUI: C0162309
Disease: Adrenoleukodystrophy
Adrenoleukodystrophy 		0.700 1.000 4 1994 2005
dbSNP: rs1569541088
rs1569541088
ABCD1
1.000 0.160 X 153740137 missense variant G/A snv
CUI: C0162309
Disease: Adrenoleukodystrophy
Adrenoleukodystrophy 		0.700 1.000 4 1996 2012
dbSNP: rs1557055340
rs1557055340
ABCD1
1.000 0.160 X 153743334 missense variant G/A;T snv
CUI: C0162309
Disease: Adrenoleukodystrophy
Adrenoleukodystrophy 		0.700 1.000 2 2011 2011
dbSNP: rs1569540704
rs1569540704
ABCD1 ; BCAP31
1.000 0.160 X 153725859 missense variant C/T snv
CUI: C0162309
Disease: Adrenoleukodystrophy
Adrenoleukodystrophy 		0.700 1.000 2 2001 2012
dbSNP: rs781862879
rs781862879
ABCD1
1.000 0.160 X 153740200 missense variant A/C snv 5.5E-06 9.4E-06
CUI: C0162309
Disease: Adrenoleukodystrophy
Adrenoleukodystrophy 		0.700 1.000 2 2012 2012
dbSNP: rs1131691954
rs1131691954
ABCD1 ; BCAP31
1.000 0.160 X 153726146 missense variant G/A snv
CUI: C0162309
Disease: Adrenoleukodystrophy
Adrenoleukodystrophy 		0.700 1.000 1 2012 2012
dbSNP: rs128624221
rs128624221
ABCD1
1.000 0.160 X 153736510 stop gained C/T snv
CUI: C0162309
Disease: Adrenoleukodystrophy
Adrenoleukodystrophy 		0.700 1.000 1 1994 1994
dbSNP: rs1557055311
rs1557055311
ABCD1
0.882 0.200 X 153743220 splice acceptor variant G/A;C snv
CUI: C0162309
Disease: Adrenoleukodystrophy
Adrenoleukodystrophy 		0.700 1.000 1 2001 2001
dbSNP: rs1557055405
rs1557055405
ABCD1
0.807 0.400 X 153743532 missense variant T/A snv
CUI: C0042025
Disease: Urinary Stress Incontinence
Urinary Stress Incontinence 		0.700 1.000 1 1998 1998
dbSNP: rs1557055405
rs1557055405
ABCD1
0.807 0.400 X 153743532 missense variant T/A snv
CUI: C0034935
Disease: Babinski Reflex
Babinski Reflex 		0.700 1.000 1 1998 1998
dbSNP: rs1557055405
rs1557055405
ABCD1
0.807 0.400 X 153743532 missense variant T/A snv
CUI: C0004096
Disease: Asthma
Asthma 		0.700 1.000 1 1998 1998
dbSNP: rs1557055405
rs1557055405
ABCD1
0.807 0.400 X 153743532 missense variant T/A snv
CUI: C0428465
Disease: Serum lipids high (finding)
Serum lipids high (finding) 		0.700 1.000 1 1998 1998
dbSNP: rs1557055405
rs1557055405
ABCD1
0.807 0.400 X 153743532 missense variant T/A snv
CUI: C1859520
Disease: Progressive spasticity
Progressive spasticity 		0.700 1.000 1 1998 1998
dbSNP: rs1557055405
rs1557055405
ABCD1
0.807 0.400 X 153743532 missense variant T/A snv
CUI: C1849134
Disease: Impaired vibration sensation in the lower limbs
Impaired vibration sensation in the lower limbs 		0.700 1.000 1 1998 1998
dbSNP: rs1557055405
rs1557055405
ABCD1
0.807 0.400 X 153743532 missense variant T/A snv
CUI: C0240914
Disease: Romberg's sign positive
Romberg's sign positive 		0.700 1.000 1 1998 1998
dbSNP: rs1557055405
rs1557055405
ABCD1
0.807 0.400 X 153743532 missense variant T/A snv
CUI: C0085606
Disease: Urgency of micturition
Urgency of micturition 		0.700 1.000 1 1998 1998
dbSNP: rs1557055405
rs1557055405
ABCD1
0.807 0.400 X 153743532 missense variant T/A snv
CUI: C2673700
Disease: Brisk reflexes
Brisk reflexes 		0.700 1.000 1 1998 1998