Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs878853321
rs878853321
GBA
CUI: C1836830
Disease: Developmental regression
Developmental regression 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs878853250
rs878853250
SCN8A
CUI: C1836830
Disease: Developmental regression
Developmental regression 		C 0.700 CausalMutation CLINVAR

dbSNP: rs876660634
rs876660634
PTEN
CUI: C1836830
Disease: Developmental regression
Developmental regression 		G 0.700 CausalMutation CLINVAR

dbSNP: rs869312878
rs869312878
AUTS2
CUI: C1836830
Disease: Developmental regression
Developmental regression 		AC 0.700 GeneticVariation CLINVAR

dbSNP: rs864309505
rs864309505
TPP1
CUI: C1836830
Disease: Developmental regression
Developmental regression 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs796052686
rs796052686
KCTD7
CUI: C1836830
Disease: Developmental regression
Developmental regression 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs796052243
rs796052243
SPATA5
CUI: C1836830
Disease: Developmental regression
Developmental regression 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs754609693
rs754609693
ECHS1
CUI: C1836830
Disease: Developmental regression
Developmental regression 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs752914124
rs752914124
SGSH
CUI: C1836830
Disease: Developmental regression
Developmental regression 		C 0.700 CausalMutation CLINVAR

dbSNP: rs751486476
rs751486476
CLN6
CUI: C1836830
Disease: Developmental regression
Developmental regression 		T 0.700 CausalMutation CLINVAR

dbSNP: rs748190164
rs748190164
HEXA
CUI: C1836830
Disease: Developmental regression
Developmental regression 		T 0.700 CausalMutation CLINVAR

dbSNP: rs727503786
rs727503786
ABCD1
CUI: C1836830
Disease: Developmental regression
Developmental regression 		T 0.700 CausalMutation CLINVAR

dbSNP: rs727502818
rs727502818
KCNC1
CUI: C1836830
Disease: Developmental regression
Developmental regression 		A 0.700 CausalMutation CLINVAR

dbSNP: rs61749715
rs61749715
MECP2
CUI: C1836830
Disease: Developmental regression
Developmental regression 		C 0.700 CausalMutation CLINVAR

dbSNP: rs61748421
rs61748421
MECP2
CUI: C1836830
Disease: Developmental regression
Developmental regression 		A 0.700 CausalMutation CLINVAR

dbSNP: rs587784347
rs587784347
PLA2G6
CUI: C1836830
Disease: Developmental regression
Developmental regression 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs587777446
rs587777446
IFIH1
CUI: C1836830
Disease: Developmental regression
Developmental regression 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs555145190
rs555145190
NAGLU
CUI: C1836830
Disease: Developmental regression
Developmental regression 		T 0.700 CausalMutation CLINVAR

dbSNP: rs553522118
rs553522118
TPP1
CUI: C1836830
Disease: Developmental regression
Developmental regression 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs546802775
rs546802775
GNPTAB
CUI: C1836830
Disease: Developmental regression
Developmental regression 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs529855742
rs529855742
SGSH
CUI: C1836830
Disease: Developmental regression
Developmental regression 		A 0.700 CausalMutation CLINVAR

dbSNP: rs397507478
rs397507478
BRAF
CUI: C1836830
Disease: Developmental regression
Developmental regression 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs387907260
rs387907260
KCTD7
CUI: C1836830
Disease: Developmental regression
Developmental regression 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs377510027
rs377510027
DARS1
CUI: C1836830
Disease: Developmental regression
Developmental regression 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs377274761
rs377274761
GALC
CUI: C1836830
Disease: Developmental regression
Developmental regression 		T 0.700 GeneticVariation CLINVAR