rs1555247853, 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 116008553 frameshift variant CCC/TGTTCGAG delins 0.700 1.000 16 1971 2018
Movement Disorders
CUI: C0026650
Disease: Movement Disorders
240 1.000 12 116008553 frameshift variant CCC/TGTTCGAG delins 0.700 1.000 16 1971 2018