rs121912974, POR

N. diseases: 4
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
10 0.882 0.240 7 75983548 missense variant G/C snv 2.4E-04 2.2E-04 0.710 1.000 1 2016 2016
ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS
9 0.882 0.240 7 75983548 missense variant G/C snv 2.4E-04 2.2E-04 0.700 0
Congenital Abnormality
CUI: C0000768
Disease: Congenital Abnormality
73 0.882 0.240 7 75983548 missense variant G/C snv 2.4E-04 2.2E-04 0.010 1.000 1 2016 2016
Trichohepatoenteric Syndrome
CUI: C1857276
Disease: Trichohepatoenteric Syndrome
28 0.882 0.240 7 75983548 missense variant G/C snv 2.4E-04 2.2E-04 0.010 1.000 1 2016 2016