Source: CLINVAR ×
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs397517154
rs397517154
0.763 0.280 2 39022773 missense variant C/A;G;T snv 4.0E-06
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System Diseases 0.700 0