Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121908681
rs121908681
PLA2G6
CUI: C1857747
Disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2 (disorder)
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2 (disorder) 		G 0.800 CausalMutation CLINVAR

dbSNP: rs121908681
rs121908681
PLA2G6
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		G 0.700 CausalMutation CLINVAR

dbSNP: rs121908681
rs121908681
PLA2G6
CUI: C4021076
Disease: Iron accumulation in brain
Iron accumulation in brain 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs121908681
rs121908681
PLA2G6
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		G 0.700 CausalMutation CLINVAR

dbSNP: rs121908681
rs121908681
PLA2G6
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		G 0.700 CausalMutation CLINVAR

dbSNP: rs121908681
rs121908681
PLA2G6
CUI: C0266470
Disease: Cerebellar Hypoplasia
Cerebellar Hypoplasia 		G 0.700 CausalMutation CLINVAR

dbSNP: rs121908681
rs121908681
PLA2G6
CUI: C1836830
Disease: Developmental regression
Developmental regression 		G 0.700 CausalMutation CLINVAR