rs1555247469, MED13L

N. diseases: 2
Source: CLINVAR ×
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
611 1.000 12 116006413 splice acceptor variant T/C snv 0.700 1.000 16 1971 2018
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
579 1.000 12 116006413 splice acceptor variant T/C snv 0.700 1.000 16 1971 2018