Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs128624223
rs128624223
Entrez Id: 215
Gene Symbol: ABCD1
ABCD1
CUI: C0162309
Disease:
Adrenoleukodystrophy
T 0.810 CausalMutation CLINVAR
dbSNP: rs1064793877
rs1064793877
Entrez Id: 215
Gene Symbol: ABCD1
ABCD1
CUI: C0162309
Disease:
Adrenoleukodystrophy
T 0.800 CausalMutation CLINVAR
dbSNP: rs128624213
rs128624213
Entrez Id: 215;10134
Gene Symbol: ABCD1;BCAP31
ABCD1;BCAP31
CUI: C0162309
Disease:
Adrenoleukodystrophy
A 0.800 CausalMutation CLINVAR
dbSNP: rs128624214
rs128624214
Entrez Id: 215
Gene Symbol: ABCD1
ABCD1
CUI: C0162309
Disease:
Adrenoleukodystrophy
G 0.800 CausalMutation CLINVAR
dbSNP: rs128624215
rs128624215
Entrez Id: 215
Gene Symbol: ABCD1
ABCD1
CUI: C0162309
Disease:
Adrenoleukodystrophy
G 0.800 CausalMutation CLINVAR
dbSNP: rs128624216
rs128624216
Entrez Id: 215;10134
Gene Symbol: ABCD1;BCAP31
ABCD1;BCAP31
CUI: C0162309
Disease:
Adrenoleukodystrophy
G 0.800 CausalMutation CLINVAR
dbSNP: rs128624217
rs128624217
Entrez Id: 215;10134
Gene Symbol: ABCD1;BCAP31
ABCD1;BCAP31
CUI: C0162309
Disease:
Adrenoleukodystrophy
G 0.800 CausalMutation CLINVAR
dbSNP: rs128624220
rs128624220
Entrez Id: 215
Gene Symbol: ABCD1
ABCD1
CUI: C0162309
Disease:
Adrenoleukodystrophy
T 0.800 CausalMutation CLINVAR
dbSNP: rs128624225
rs128624225
Entrez Id: 215
Gene Symbol: ABCD1
ABCD1
CUI: C0162309
Disease:
Adrenoleukodystrophy
T 0.800 CausalMutation CLINVAR
dbSNP: rs193922097
rs193922097
Entrez Id: 215;10134
Gene Symbol: ABCD1;BCAP31
ABCD1;BCAP31
CUI: C0162309
Disease:
Adrenoleukodystrophy
A 0.800 CausalMutation CLINVAR
dbSNP: rs193922098
rs193922098
Entrez Id: 215;10134
Gene Symbol: ABCD1;BCAP31
ABCD1;BCAP31
CUI: C0162309
Disease:
Adrenoleukodystrophy
T 0.800 GeneticVariation CLINVAR
dbSNP: rs797044610
rs797044610
Entrez Id: 215;10134
Gene Symbol: ABCD1;BCAP31
ABCD1;BCAP31
CUI: C0162309
Disease:
Adrenoleukodystrophy
0.800 GeneticVariation UNIPROT
dbSNP: rs1057518721
rs1057518721
Entrez Id: 215;10134
Gene Symbol: ABCD1;BCAP31
ABCD1;BCAP31
CUI: C3806634
Disease:
DEAFNESS, DYSTONIA, AND CEREBRAL HYPOMYELINATION
T 0.700 CausalMutation CLINVAR
dbSNP: rs1170974058
rs1170974058
Entrez Id: 215
Gene Symbol: ABCD1
ABCD1
CUI: C0162309
Disease:
Adrenoleukodystrophy
A 0.700 CausalMutation CLINVAR
dbSNP: rs128624221
rs128624221
Entrez Id: 215
Gene Symbol: ABCD1
ABCD1
CUI: C0162309
Disease:
Adrenoleukodystrophy
T 0.700 CausalMutation CLINVAR
dbSNP: rs128624222
rs128624222
Entrez Id: 215
Gene Symbol: ABCD1
ABCD1
CUI: C0162309
Disease:
Adrenoleukodystrophy
T 0.700 CausalMutation CLINVAR
dbSNP: rs128624225
rs128624225
Entrez Id: 215
Gene Symbol: ABCD1
ABCD1
CUI: C1868690
Disease:
Hypoadrenocorticism, familial
T 0.700 CausalMutation CLINVAR
dbSNP: rs1557052133
rs1557052133
Entrez Id: 215;10134
Gene Symbol: ABCD1;BCAP31
ABCD1;BCAP31
CUI: C0162309
Disease:
Adrenoleukodystrophy
CT 0.700 CausalMutation CLINVAR
dbSNP: rs1557052171
rs1557052171
Entrez Id: 215;10134
Gene Symbol: ABCD1;BCAP31
ABCD1;BCAP31
CUI: C0162309
Disease:
Adrenoleukodystrophy
G 0.700 CausalMutation CLINVAR
dbSNP: rs1557052397
rs1557052397
Entrez Id: 215;10134
Gene Symbol: ABCD1;BCAP31
ABCD1;BCAP31
CUI: C0162309
Disease:
Adrenoleukodystrophy
ACCTACTAC 0.700 CausalMutation CLINVAR
dbSNP: rs1557052530
rs1557052530
Entrez Id: 215;10134
Gene Symbol: ABCD1;BCAP31
ABCD1;BCAP31
CUI: C0162309
Disease:
Adrenoleukodystrophy
CAACG 0.700 CausalMutation CLINVAR
dbSNP: rs1557054210
rs1557054210
Entrez Id: 215
Gene Symbol: ABCD1
ABCD1
CUI: C0162309
Disease:
Adrenoleukodystrophy
T 0.700 CausalMutation CLINVAR
dbSNP: rs1557054745
rs1557054745
Entrez Id: 215
Gene Symbol: ABCD1
ABCD1
CUI: C0162309
Disease:
Adrenoleukodystrophy
A 0.700 CausalMutation CLINVAR
dbSNP: rs1557054875
rs1557054875
Entrez Id: 215
Gene Symbol: ABCD1
ABCD1
CUI: C0162309
Disease:
Adrenoleukodystrophy
G 0.700 CausalMutation CLINVAR
dbSNP: rs1557055253
rs1557055253
Entrez Id: 215
Gene Symbol: ABCD1
ABCD1
CUI: C0162309
Disease:
Adrenoleukodystrophy
C 0.700 CausalMutation CLINVAR