Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs760609867
rs760609867
Entrez Id: 11212
Gene Symbol: PLPBP
PLPBP
CUI: C4310632
Disease:
EPILEPSY, EARLY-ONSET, VITAMIN B6-DEPENDENT 		0.800 GeneticVariation UNIPROT Mutations in PROSC Disrupt Cellular Pyridoxal Phosphate Homeostasis and Cause Vitamin-B6-Dependent Epilepsy. 27912044 2016
dbSNP: rs752753379
rs752753379
Entrez Id: 11212
Gene Symbol: PLPBP
PLPBP
CUI: C4310632
Disease:
EPILEPSY, EARLY-ONSET, VITAMIN B6-DEPENDENT 		0.800 GeneticVariation UNIPROT
dbSNP: rs752753379
rs752753379
Entrez Id: 11212
Gene Symbol: PLPBP
PLPBP
CUI: C4310632
Disease:
EPILEPSY, EARLY-ONSET, VITAMIN B6-DEPENDENT 		C 0.800 CausalMutation CLINVAR
dbSNP: rs755946598
rs755946598
Entrez Id: 11212
Gene Symbol: PLPBP
PLPBP
CUI: C4310632
Disease:
EPILEPSY, EARLY-ONSET, VITAMIN B6-DEPENDENT 		0.800 GeneticVariation UNIPROT
dbSNP: rs755946598
rs755946598
Entrez Id: 11212
Gene Symbol: PLPBP
PLPBP
CUI: C4310632
Disease:
EPILEPSY, EARLY-ONSET, VITAMIN B6-DEPENDENT 		T 0.800 CausalMutation CLINVAR
dbSNP: rs760609867
rs760609867
Entrez Id: 11212
Gene Symbol: PLPBP
PLPBP
CUI: C4310632
Disease:
EPILEPSY, EARLY-ONSET, VITAMIN B6-DEPENDENT 		A 0.800 CausalMutation CLINVAR
dbSNP: rs1057519273
rs1057519273
Entrez Id: 11212
Gene Symbol: PLPBP
PLPBP
CUI: C4310632
Disease:
EPILEPSY, EARLY-ONSET, VITAMIN B6-DEPENDENT 		G 0.700 CausalMutation CLINVAR
dbSNP: rs1057519424
rs1057519424
Entrez Id: 11212
Gene Symbol: PLPBP
PLPBP
CUI: C4310632
Disease:
EPILEPSY, EARLY-ONSET, VITAMIN B6-DEPENDENT 		G 0.700 CausalMutation CLINVAR
dbSNP: rs767795673
rs767795673
Entrez Id: 11212
Gene Symbol: PLPBP
PLPBP
CUI: C4310632
Disease:
EPILEPSY, EARLY-ONSET, VITAMIN B6-DEPENDENT 		A 0.700 CausalMutation CLINVAR