Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121908116
rs121908116
EDARADD
0.800 GeneticVariation UNIPROT Only four genes (EDA1, EDAR, EDARADD, and WNT10A) account for 90% of hypohidrotic/anhidrotic ectodermal dysplasia cases. 20979233

2011
dbSNP: rs121908116
rs121908116
EDARADD
0.800 GeneticVariation UNIPROT Autosomal dominant anhidrotic ectodermal dysplasias at the EDARADD locus. 17354266

2007
dbSNP: rs121908116
rs121908116
EDARADD
G 0.800 CausalMutation CLINVAR

dbSNP: rs1558793621
rs1558793621
RANBP2 ; EDAR
GC 0.700 CausalMutation CLINVAR Identification of a novel frameshift mutation in the EDAR gene causing autosomal dominant hypohidrotic ectodermal dysplasia. 24641098

2015
dbSNP: rs1558793736
rs1558793736
RANBP2 ; EDAR
A 0.700 CausalMutation CLINVAR Identification of a novel frameshift mutation in the EDAR gene causing autosomal dominant hypohidrotic ectodermal dysplasia. 24641098

2015
dbSNP: rs1558793621
rs1558793621
RANBP2 ; EDAR
GC 0.700 CausalMutation CLINVAR Mutations in WNT10A are frequently involved in oligodontia associated with minor signs of ectodermal dysplasia. 23401279

2013
dbSNP: rs1558793736
rs1558793736
RANBP2 ; EDAR
A 0.700 CausalMutation CLINVAR Mutations in WNT10A are frequently involved in oligodontia associated with minor signs of ectodermal dysplasia. 23401279

2013
dbSNP: rs757233170
rs757233170
RANBP2 ; EDAR
C 0.700 GeneticVariation CLINVAR Only four genes (EDA1, EDAR, EDARADD, and WNT10A) account for 90% of hypohidrotic/anhidrotic ectodermal dysplasia cases. 20979233

2011
dbSNP: rs757233170
rs757233170
RANBP2 ; EDAR
C 0.700 GeneticVariation CLINVAR Mutations in the human homologue of mouse dl cause autosomal recessive and dominant hypohidrotic ectodermal dysplasia. 10431241

1999
dbSNP: rs1432041144
rs1432041144
RANBP2 ; EDAR
A 0.700 CausalMutation CLINVAR

dbSNP: rs954823206
rs954823206
EDARADD
A 0.700 GeneticVariation CLINVAR

dbSNP: rs132630312
rs132630312
EDA
0.010 GeneticVariation BEFREE The second mutation, located outside the minimal furin consensus motif (c.463C>T, p.Arg155Cys, rs132630312), was identified in the patient exhibiting all typical features of HED. 27054699

2016
dbSNP: rs3827760
rs3827760
RANBP2 ; EDAR
0.010 GeneticVariation BEFREE The EDA1R variant rs3827760 (p.Val370Ala), known to lessen HED-related symptoms, was found only in a single individual of Asian origin, but in none of the 123 European patients. 27305980

2016
dbSNP: rs132630317
rs132630317
EDA
0.010 GeneticVariation BEFREE We report HED in a 6-year-old boy with an Ala349Thr (GCA --> ACA) missense mutation developed de novo. 15461765

2005
dbSNP: rs104894415
rs104894415
GJB6
0.010 GeneticVariation BEFREE our data suggests that a G11R missense mutation in the Cx30 gene can cause HED in Chinese Han population and emphasizes the importance of screening for this as well as other Cx30 gene mutations in the HED. 12788524

2003