rs1553234339, COL11A1

N. diseases: 2
Source: CURATED ×
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 1 103012412 splice donor variant C/T snv 0.700 1.000 6 1998 2014
Multiple congenital anomalies
CUI: C0000772
Disease: Multiple congenital anomalies
350 1.000 1 103012412 splice donor variant C/T snv 0.700 1.000 6 1998 2014