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: 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: rs748787734
rs748787734
TUBB4A
CUI: C1836830
Disease: Developmental regression
Developmental regression 		C 0.700 GeneticVariation CLINVAR Hypomyelination with atrophy of the basal ganglia and cerebellum: further delineation of the phenotype and genotype-phenotype correlation. 24785942

2014
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: 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: 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

dbSNP: rs281864996
rs281864996
GNPTAB
CUI: C1836830
Disease: Developmental regression
Developmental regression 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1568427678
rs1568427678
GCDH
CUI: C1836830
Disease: Developmental regression
Developmental regression 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs1566785990
rs1566785990
IRF2BPL ; LOC107984638
CUI: C1836830
Disease: Developmental regression
Developmental regression 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs1555377415
rs1555377415
IRF2BPL ; LOC107984638
CUI: C1836830
Disease: Developmental regression
Developmental regression 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs1554901898
rs1554901898
TPP1
CUI: C1836830
Disease: Developmental regression
Developmental regression 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs1554317002
rs1554317002
CDK13 ; LOC112267983
CUI: C1836830
Disease: Developmental regression
Developmental regression 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs150726175
rs150726175
NMNAT1
CUI: C1836830
Disease: Developmental regression
Developmental regression 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs150321966
rs150321966
ECHS1
CUI: C1836830
Disease: Developmental regression
Developmental regression 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1448259271
rs1448259271
IRF2BPL ; LOC107984638
CUI: C1836830
Disease: Developmental regression
Developmental regression 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1247665387
rs1247665387
FA2H
CUI: C1836830
Disease: Developmental regression
Developmental regression 		A 0.700 GeneticVariation CLINVAR