rs1318353774, CACNA1A

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 19 13298827 stop gained G/A;C snv 0.700 1.000 46 1988 2017
Multiple congenital anomalies
CUI: C0000772
Disease: Multiple congenital anomalies
350 1.000 19 13298827 stop gained G/A;C snv 0.700 1.000 46 1988 2017