rs1556340124, MED12

N. diseases: 2
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 1.000 X 71141320 stop gained C/T snv 0.700 1.000 14 1993 2016
Multiple congenital anomalies
CUI: C0000772
Disease: Multiple congenital anomalies
350 1.000 X 71141320 stop gained C/T snv 0.700 1.000 14 1993 2016