Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
46,XY Gonadal Dysgenesis, Complete or Partial, DHH-Related
CUI: C1856273
Disease: 46,XY Gonadal Dysgenesis, Complete or Partial, DHH-Related
5 0.807 0.160 12 49091165 stop gained G/C;T snv 0.700 1.000 1 2018 2018
Cryptorchidism
CUI: C0010417
Disease: Cryptorchidism
80 0.807 0.160 12 49091165 stop gained G/C;T snv 0.700 1.000 1 2018 2018
Hypospadias, perineal
CUI: C0452148
Disease: Hypospadias, perineal
15 0.807 0.160 12 49091165 stop gained G/C;T snv 0.700 1.000 1 2018 2018
Male Pseudohermaphroditism
CUI: C0238395
Disease: Male Pseudohermaphroditism
4 0.807 0.160 12 49091165 stop gained G/C;T snv 0.700 1.000 1 2018 2018
Micropenis
CUI: C4551492
Disease: Micropenis
21 0.807 0.160 12 49091165 stop gained G/C;T snv 0.700 1.000 1 2018 2018
Testicular dysgenesis
CUI: C0302885
Disease: Testicular dysgenesis
2 0.807 0.160 12 49091165 stop gained G/C;T snv 0.700 1.000 1 2018 2018