Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs878854416
rs878854416
HECW2
0.800 GeneticVariation UNIPROT De novo missense variants in HECW2 are associated with neurodevelopmental delay and hypotonia. 27389779

2017
dbSNP: rs878854417
rs878854417
HECW2
0.800 GeneticVariation UNIPROT De novo missense variants in HECW2 are associated with neurodevelopmental delay and hypotonia. 27389779

2017
dbSNP: rs878854422
rs878854422
HECW2
0.800 GeneticVariation UNIPROT De novo missense variants in HECW2 are associated with neurodevelopmental delay and hypotonia. 27389779

2017
dbSNP: rs878854416
rs878854416
HECW2
T 0.800 CausalMutation CLINVAR

dbSNP: rs878854417
rs878854417
HECW2
A 0.800 CausalMutation CLINVAR

dbSNP: rs878854422
rs878854422
HECW2
C 0.800 CausalMutation CLINVAR

dbSNP: rs878854424
rs878854424
HECW2
0.700 GeneticVariation UNIPROT De novo missense variants in HECW2 are associated with neurodevelopmental delay and hypotonia. 27389779

2017