Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1480612338
rs1480612338
DHH ; LOC105369759
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		T 0.700 GeneticVariation CLINVAR In vitro functional characterization of the novel DHH mutations p.(Asn337Lysfs*24) and p.(Glu212Lys) associated with gonadal dysgenesis. 30298535

2018
dbSNP: rs1565573786
rs1565573786
DHH ; LOC105369759
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		C 0.700 CausalMutation CLINVAR In vitro functional characterization of the novel DHH mutations p.(Asn337Lysfs*24) and p.(Glu212Lys) associated with gonadal dysgenesis. 30298535

2018