rs201405525, DECR1

N. diseases: 3
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.
Antley-Bixler Syndrome with Disordered Steroidogenesis
CUI: C1860042
Disease: Antley-Bixler Syndrome with Disordered Steroidogenesis
10 0.925 0.240 8 90044993 missense variant G/A;C snv 4.5E-04; 4.0E-06 0.010 1.000 1 2016 2016
Congenital Abnormality
CUI: C0000768
Disease: Congenital Abnormality
73 0.925 0.240 8 90044993 missense variant G/A;C snv 4.5E-04; 4.0E-06 0.010 1.000 1 2016 2016
Trichohepatoenteric Syndrome
CUI: C1857276
Disease: Trichohepatoenteric Syndrome
28 0.925 0.240 8 90044993 missense variant G/A;C snv 4.5E-04; 4.0E-06 0.010 1.000 1 2016 2016