Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs797045965
rs797045965
Entrez Id: 6567;105373252
Gene Symbol: SLC16A2;LOC105373252
SLC16A2;LOC105373252
CUI: C0795889
Disease:
Allan-Herndon-Dudley syndrome (AHDS)
A 0.700 CausalMutation CLINVAR
dbSNP: rs797045966
rs797045966
Entrez Id: 6567;105373252
Gene Symbol: SLC16A2;LOC105373252
SLC16A2;LOC105373252
CUI: C0795889
Disease:
Allan-Herndon-Dudley syndrome (AHDS)
T 0.700 CausalMutation CLINVAR
dbSNP: rs104894931
rs104894931
Entrez Id: 6567
Gene Symbol: SLC16A2
SLC16A2
CUI: C0795889
Disease:
Allan-Herndon-Dudley syndrome (AHDS)
0.800 GeneticVariation UNIPROT A novel syndrome combining thyroid and neurological abnormalities is associated with mutations in a monocarboxylate transporter gene. 14661163 2004
dbSNP: rs104894936
rs104894936
Entrez Id: 6567
Gene Symbol: SLC16A2
SLC16A2
CUI: C0795889
Disease:
Allan-Herndon-Dudley syndrome (AHDS)
0.800 GeneticVariation UNIPROT A novel syndrome combining thyroid and neurological abnormalities is associated with mutations in a monocarboxylate transporter gene. 14661163 2004
dbSNP: rs104894938
rs104894938
Entrez Id: 6567
Gene Symbol: SLC16A2
SLC16A2
CUI: C0795889
Disease:
Allan-Herndon-Dudley syndrome (AHDS)
0.800 GeneticVariation UNIPROT A novel syndrome combining thyroid and neurological abnormalities is associated with mutations in a monocarboxylate transporter gene. 14661163 2004
dbSNP: rs104894939
rs104894939
Entrez Id: 6567
Gene Symbol: SLC16A2
SLC16A2
CUI: C0795889
Disease:
Allan-Herndon-Dudley syndrome (AHDS)
0.800 GeneticVariation UNIPROT A novel syndrome combining thyroid and neurological abnormalities is associated with mutations in a monocarboxylate transporter gene. 14661163 2004
dbSNP: rs122455132
rs122455132
Entrez Id: 6567
Gene Symbol: SLC16A2
SLC16A2
CUI: C0795889
Disease:
Allan-Herndon-Dudley syndrome (AHDS)
0.800 GeneticVariation UNIPROT A novel syndrome combining thyroid and neurological abnormalities is associated with mutations in a monocarboxylate transporter gene. 14661163 2004
dbSNP: rs587784384
rs587784384
Entrez Id: 6567
Gene Symbol: SLC16A2
SLC16A2
CUI: C0795889
Disease:
Allan-Herndon-Dudley syndrome (AHDS)
0.800 GeneticVariation UNIPROT A novel syndrome combining thyroid and neurological abnormalities is associated with mutations in a monocarboxylate transporter gene. 14661163 2004
dbSNP: rs373279555
rs373279555
Entrez Id: 6567
Gene Symbol: SLC16A2
SLC16A2
CUI: C0795889
Disease:
Allan-Herndon-Dudley syndrome (AHDS)
0.700 GeneticVariation UNIPROT A novel syndrome combining thyroid and neurological abnormalities is associated with mutations in a monocarboxylate transporter gene. 14661163 2004
dbSNP: rs398124232
rs398124232
Entrez Id: 6567
Gene Symbol: SLC16A2
SLC16A2
CUI: C0795889
Disease:
Allan-Herndon-Dudley syndrome (AHDS)
0.700 GeneticVariation UNIPROT A novel syndrome combining thyroid and neurological abnormalities is associated with mutations in a monocarboxylate transporter gene. 14661163 2004
dbSNP: rs794727799
rs794727799
Entrez Id: 6567
Gene Symbol: SLC16A2
SLC16A2
CUI: C0795889
Disease:
Allan-Herndon-Dudley syndrome (AHDS)
0.700 GeneticVariation UNIPROT A novel syndrome combining thyroid and neurological abnormalities is associated with mutations in a monocarboxylate transporter gene. 14661163 2004
dbSNP: rs104894931
rs104894931
Entrez Id: 6567
Gene Symbol: SLC16A2
SLC16A2
CUI: C0795889
Disease:
Allan-Herndon-Dudley syndrome (AHDS)
0.800 GeneticVariation UNIPROT Allan-Herndon-Dudley syndrome and the monocarboxylate transporter 8 (MCT8) gene. 15889350 2005
dbSNP: rs104894936
rs104894936
Entrez Id: 6567
Gene Symbol: SLC16A2
SLC16A2
CUI: C0795889
Disease:
Allan-Herndon-Dudley syndrome (AHDS)
0.800 GeneticVariation UNIPROT Allan-Herndon-Dudley syndrome and the monocarboxylate transporter 8 (MCT8) gene. 15889350 2005
dbSNP: rs104894938
rs104894938
Entrez Id: 6567
Gene Symbol: SLC16A2
SLC16A2
CUI: C0795889
Disease:
Allan-Herndon-Dudley syndrome (AHDS)
0.800 GeneticVariation UNIPROT Allan-Herndon-Dudley syndrome and the monocarboxylate transporter 8 (MCT8) gene. 15889350 2005
dbSNP: rs104894939
rs104894939
Entrez Id: 6567
Gene Symbol: SLC16A2
SLC16A2
CUI: C0795889
Disease:
Allan-Herndon-Dudley syndrome (AHDS)
0.800 GeneticVariation UNIPROT Allan-Herndon-Dudley syndrome and the monocarboxylate transporter 8 (MCT8) gene. 15889350 2005
dbSNP: rs122455132
rs122455132
Entrez Id: 6567
Gene Symbol: SLC16A2
SLC16A2
CUI: C0795889
Disease:
Allan-Herndon-Dudley syndrome (AHDS)
0.800 GeneticVariation UNIPROT Allan-Herndon-Dudley syndrome and the monocarboxylate transporter 8 (MCT8) gene. 15889350 2005
dbSNP: rs587784384
rs587784384
Entrez Id: 6567
Gene Symbol: SLC16A2
SLC16A2
CUI: C0795889
Disease:
Allan-Herndon-Dudley syndrome (AHDS)
0.800 GeneticVariation UNIPROT Allan-Herndon-Dudley syndrome and the monocarboxylate transporter 8 (MCT8) gene. 15889350 2005
dbSNP: rs373279555
rs373279555
Entrez Id: 6567
Gene Symbol: SLC16A2
SLC16A2
CUI: C0795889
Disease:
Allan-Herndon-Dudley syndrome (AHDS)
0.700 GeneticVariation UNIPROT Allan-Herndon-Dudley syndrome and the monocarboxylate transporter 8 (MCT8) gene. 15889350 2005
dbSNP: rs398124232
rs398124232
Entrez Id: 6567
Gene Symbol: SLC16A2
SLC16A2
CUI: C0795889
Disease:
Allan-Herndon-Dudley syndrome (AHDS)
0.700 GeneticVariation UNIPROT Allan-Herndon-Dudley syndrome and the monocarboxylate transporter 8 (MCT8) gene. 15889350 2005
dbSNP: rs794727799
rs794727799
Entrez Id: 6567
Gene Symbol: SLC16A2
SLC16A2
CUI: C0795889
Disease:
Allan-Herndon-Dudley syndrome (AHDS)
0.700 GeneticVariation UNIPROT Allan-Herndon-Dudley syndrome and the monocarboxylate transporter 8 (MCT8) gene. 15889350 2005
dbSNP: rs104894931
rs104894931
Entrez Id: 6567
Gene Symbol: SLC16A2
SLC16A2
CUI: C0795889
Disease:
Allan-Herndon-Dudley syndrome (AHDS)
0.800 GeneticVariation UNIPROT Association between mutations in a thyroid hormone transporter and severe X-linked psychomotor retardation. 15488219 2004
dbSNP: rs104894936
rs104894936
Entrez Id: 6567
Gene Symbol: SLC16A2
SLC16A2
CUI: C0795889
Disease:
Allan-Herndon-Dudley syndrome (AHDS)
0.800 GeneticVariation UNIPROT Association between mutations in a thyroid hormone transporter and severe X-linked psychomotor retardation. 15488219 2004
dbSNP: rs104894938
rs104894938
Entrez Id: 6567
Gene Symbol: SLC16A2
SLC16A2
CUI: C0795889
Disease:
Allan-Herndon-Dudley syndrome (AHDS)
0.800 GeneticVariation UNIPROT Association between mutations in a thyroid hormone transporter and severe X-linked psychomotor retardation. 15488219 2004
dbSNP: rs104894939
rs104894939
Entrez Id: 6567
Gene Symbol: SLC16A2
SLC16A2
CUI: C0795889
Disease:
Allan-Herndon-Dudley syndrome (AHDS)
0.800 GeneticVariation UNIPROT Association between mutations in a thyroid hormone transporter and severe X-linked psychomotor retardation. 15488219 2004
dbSNP: rs122455132
rs122455132
Entrez Id: 6567
Gene Symbol: SLC16A2
SLC16A2
CUI: C0795889
Disease:
Allan-Herndon-Dudley syndrome (AHDS)
0.800 GeneticVariation UNIPROT Association between mutations in a thyroid hormone transporter and severe X-linked psychomotor retardation. 15488219 2004