rs797044883, MAGEL2

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.
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
617 0.882 0.160 15 23645831 stop gained G/A snv 0.700 1.000 10 1993 2015
Multiple congenital anomalies
CUI: C0000772
Disease: Multiple congenital anomalies
350 0.882 0.160 15 23645831 stop gained G/A snv 0.700 1.000 10 1993 2015
Prader-Willi Syndrome
CUI: C0032897
Disease: Prader-Willi Syndrome
8 0.882 0.160 15 23645831 stop gained G/A snv 0.700 0
Prader-Willi-like syndrome
CUI: C3809877
Disease: Prader-Willi-like syndrome
17 0.882 0.160 15 23645831 stop gained G/A snv 0.700 0