rs267606653, ALX4

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.
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
617 0.925 11 44267607 stop gained G/A snv 0.700 1.000 6 2000 2012
Multiple congenital anomalies
CUI: C0000772
Disease: Multiple congenital anomalies
350 0.925 11 44267607 stop gained G/A snv 0.700 1.000 6 2000 2012
FRONTONASAL DYSPLASIA 2
CUI: C3150703
Disease: FRONTONASAL DYSPLASIA 2
4 0.925 11 44267607 stop gained G/A snv 0.700 0