rs28931606, POR

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, Autosomal Dominant
13 0.882 0.120 7 75985655 missense variant T/A snv 0.010 1.000 1 2008 2008
CONSTRICTING BANDS, CONGENITAL
CUI: C0220724
Disease: CONSTRICTING BANDS, CONGENITAL
1 0.882 0.120 7 75985655 missense variant T/A snv 0.010 1.000 1 2006 2006
ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS
9 0.882 0.120 7 75985655 missense variant T/A snv 0.700 0