Source: CURATED

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28935476
rs28935476
HSD17B10
CUI: C3266731
Disease: 2-methyl-3-hydroxybutyric aciduria
2-methyl-3-hydroxybutyric aciduria 		C 0.810 CausalMutation CLINVAR

dbSNP: rs28935476
rs28935476
HSD17B10
CUI: C3266731
Disease: 2-methyl-3-hydroxybutyric aciduria
2-methyl-3-hydroxybutyric aciduria 		0.810 GeneticVariation UNIPROT

dbSNP: rs886041974
rs886041974
HSD17B10 ; RIBC1
CUI: C3266731
Disease: 2-methyl-3-hydroxybutyric aciduria
2-methyl-3-hydroxybutyric aciduria 		0.800 GeneticVariation UNIPROT

dbSNP: rs886041974
rs886041974
HSD17B10 ; RIBC1
CUI: C3266731
Disease: 2-methyl-3-hydroxybutyric aciduria
2-methyl-3-hydroxybutyric aciduria 		C 0.800 CausalMutation CLINVAR

dbSNP: rs62626305
rs62626305
HSD17B10 ; RIBC1
CUI: C3266731
Disease: 2-methyl-3-hydroxybutyric aciduria
2-methyl-3-hydroxybutyric aciduria 		G 0.800 CausalMutation CLINVAR

dbSNP: rs587777651
rs587777651
HSD17B10
CUI: C3266731
Disease: 2-methyl-3-hydroxybutyric aciduria
2-methyl-3-hydroxybutyric aciduria 		C 0.800 CausalMutation CLINVAR

dbSNP: rs28935475
rs28935475
HSD17B10
CUI: C3266731
Disease: 2-methyl-3-hydroxybutyric aciduria
2-methyl-3-hydroxybutyric aciduria 		A 0.800 CausalMutation CLINVAR

dbSNP: rs28935475
rs28935475
HSD17B10
CUI: C3266731
Disease: 2-methyl-3-hydroxybutyric aciduria
2-methyl-3-hydroxybutyric aciduria 		0.800 GeneticVariation UNIPROT

dbSNP: rs122461163
rs122461163
HSD17B10 ; RIBC1
CUI: C3266731
Disease: 2-methyl-3-hydroxybutyric aciduria
2-methyl-3-hydroxybutyric aciduria 		C 0.800 CausalMutation CLINVAR

dbSNP: rs886037927
rs886037927
HSD17B10
CUI: C3266731
Disease: 2-methyl-3-hydroxybutyric aciduria
2-methyl-3-hydroxybutyric aciduria 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1556894502
rs1556894502
HSD17B10 ; RIBC1
CUI: C3266731
Disease: 2-methyl-3-hydroxybutyric aciduria
2-methyl-3-hydroxybutyric aciduria 		0.700 GeneticVariation UNIPROT

dbSNP: rs122462164
rs122462164
HSD17B10
CUI: C3266731
Disease: 2-methyl-3-hydroxybutyric aciduria
2-methyl-3-hydroxybutyric aciduria 		T 0.700 CausalMutation CLINVAR

dbSNP: rs62626305
rs62626305
HSD17B10 ; RIBC1
CUI: C3266731
Disease: 2-methyl-3-hydroxybutyric aciduria
2-methyl-3-hydroxybutyric aciduria 		0.800 GeneticVariation UNIPROT 2-Methyl-3-hydroxybutyryl-CoA dehydrogenase (MHBD) deficiency: an X-linked inborn error of isoleucine metabolism that may mimic a mitochondrial disease. 16148061

2005
dbSNP: rs587777651
rs587777651
HSD17B10
CUI: C3266731
Disease: 2-methyl-3-hydroxybutyric aciduria
2-methyl-3-hydroxybutyric aciduria 		0.800 GeneticVariation UNIPROT 2-Methyl-3-hydroxybutyryl-CoA dehydrogenase (MHBD) deficiency: an X-linked inborn error of isoleucine metabolism that may mimic a mitochondrial disease. 16148061

2005
dbSNP: rs122461163
rs122461163
HSD17B10 ; RIBC1
CUI: C3266731
Disease: 2-methyl-3-hydroxybutyric aciduria
2-methyl-3-hydroxybutyric aciduria 		0.800 GeneticVariation UNIPROT 2-Methyl-3-hydroxybutyryl-CoA dehydrogenase (MHBD) deficiency: an X-linked inborn error of isoleucine metabolism that may mimic a mitochondrial disease. 16148061

2005
dbSNP: rs104886492
rs104886492
HSD17B10
CUI: C3266731
Disease: 2-methyl-3-hydroxybutyric aciduria
2-methyl-3-hydroxybutyric aciduria 		0.700 GeneticVariation UNIPROT 2-Methyl-3-hydroxybutyryl-CoA dehydrogenase (MHBD) deficiency: an X-linked inborn error of isoleucine metabolism that may mimic a mitochondrial disease. 16148061

2005
dbSNP: rs62626305
rs62626305
HSD17B10 ; RIBC1
CUI: C3266731
Disease: 2-methyl-3-hydroxybutyric aciduria
2-methyl-3-hydroxybutyric aciduria 		0.800 GeneticVariation UNIPROT 2-Methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency is caused by mutations in the HADH2 gene. 12696021

2003
dbSNP: rs587777651
rs587777651
HSD17B10
CUI: C3266731
Disease: 2-methyl-3-hydroxybutyric aciduria
2-methyl-3-hydroxybutyric aciduria 		0.800 GeneticVariation UNIPROT 2-Methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency is caused by mutations in the HADH2 gene. 12696021

2003
dbSNP: rs122461163
rs122461163
HSD17B10 ; RIBC1
CUI: C3266731
Disease: 2-methyl-3-hydroxybutyric aciduria
2-methyl-3-hydroxybutyric aciduria 		0.800 GeneticVariation UNIPROT 2-Methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency is caused by mutations in the HADH2 gene. 12696021

2003
dbSNP: rs104886492
rs104886492
HSD17B10
CUI: C3266731
Disease: 2-methyl-3-hydroxybutyric aciduria
2-methyl-3-hydroxybutyric aciduria 		0.700 GeneticVariation UNIPROT 2-Methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency is caused by mutations in the HADH2 gene. 12696021

2003
dbSNP: rs62626305
rs62626305
HSD17B10 ; RIBC1
CUI: C3266731
Disease: 2-methyl-3-hydroxybutyric aciduria
2-methyl-3-hydroxybutyric aciduria 		0.800 GeneticVariation UNIPROT A non-enzymatic function of 17beta-hydroxysteroid dehydrogenase type 10 is required for mitochondrial integrity and cell survival. 20077426

2010
dbSNP: rs587777651
rs587777651
HSD17B10
CUI: C3266731
Disease: 2-methyl-3-hydroxybutyric aciduria
2-methyl-3-hydroxybutyric aciduria 		0.800 GeneticVariation UNIPROT A non-enzymatic function of 17beta-hydroxysteroid dehydrogenase type 10 is required for mitochondrial integrity and cell survival. 20077426

2010
dbSNP: rs122461163
rs122461163
HSD17B10 ; RIBC1
CUI: C3266731
Disease: 2-methyl-3-hydroxybutyric aciduria
2-methyl-3-hydroxybutyric aciduria 		0.800 GeneticVariation UNIPROT A non-enzymatic function of 17beta-hydroxysteroid dehydrogenase type 10 is required for mitochondrial integrity and cell survival. 20077426

2010
dbSNP: rs104886492
rs104886492
HSD17B10
CUI: C3266731
Disease: 2-methyl-3-hydroxybutyric aciduria
2-methyl-3-hydroxybutyric aciduria 		0.700 GeneticVariation UNIPROT A non-enzymatic function of 17beta-hydroxysteroid dehydrogenase type 10 is required for mitochondrial integrity and cell survival. 20077426

2010
dbSNP: rs62626305
rs62626305
HSD17B10 ; RIBC1
CUI: C3266731
Disease: 2-methyl-3-hydroxybutyric aciduria
2-methyl-3-hydroxybutyric aciduria 		0.800 GeneticVariation UNIPROT A novel HSD17B10 mutation impairing the activities of the mitochondrial RNase P complex causes X-linked intractable epilepsy and neurodevelopmental regression. 26950678

2016