Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121908453
rs121908453
RANBP2 ; EDAR
T 0.800 CausalMutation CLINVAR Mutation screening of the Ectodysplasin-A receptor gene EDAR in hypohidrotic ectodermal dysplasia. 18231121

2008
dbSNP: rs121908453
rs121908453
RANBP2 ; EDAR
0.800 GeneticVariation UNIPROT Mutation screening of the Ectodysplasin-A receptor gene EDAR in hypohidrotic ectodermal dysplasia. 18231121

2008
dbSNP: rs121908453
rs121908453
RANBP2 ; EDAR
T 0.800 CausalMutation CLINVAR Mutations in EDAR account for one-quarter of non-ED1-related hypohidrotic ectodermal dysplasia. 16435307

2006
dbSNP: rs121908453
rs121908453
RANBP2 ; EDAR
T 0.800 CausalMutation CLINVAR Mutations in the human homologue of mouse dl cause autosomal recessive and dominant hypohidrotic ectodermal dysplasia. 10431241

1999
dbSNP: rs121908453
rs121908453
RANBP2 ; EDAR
0.800 GeneticVariation UNIPROT Mutations in the human homologue of mouse dl cause autosomal recessive and dominant hypohidrotic ectodermal dysplasia. 10431241

1999
dbSNP: rs557166582
rs557166582
RANBP2 ; EDAR
A 0.700 GeneticVariation CLINVAR A founder ectodysplasin A receptor (EDAR) mutation results in a high frequency of the autosomal recessive form of hypohidrotic ectodermal dysplasia in India. 22032522

2012
dbSNP: rs1060499610
rs1060499610
RANBP2 ; EDAR
G 0.700 CausalMutation CLINVAR

dbSNP: rs1310296844
rs1310296844
RANBP2 ; EDAR
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1553444895
rs1553444895
RANBP2 ; EDAR
T 0.700 GeneticVariation CLINVAR

dbSNP: rs886041005
rs886041005
RANBP2 ; EDAR
T 0.700 GeneticVariation CLINVAR

dbSNP: rs917638291
rs917638291
RANBP2 ; EDAR
G 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