rs1555244216, MED13L

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 12 115987290 splice acceptor variant T/C snv 0.700 1.000 16 1971 2018
Overgrowth
CUI: C1849265
Disease: Overgrowth
93 1.000 12 115987290 splice acceptor variant T/C snv 0.700 1.000 16 1971 2018