rs1462161137, METTL23

N. diseases: 3
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 17 76733042 frameshift variant -/A delins 7.0E-06 0.700 1.000 2 2014 2014
Multiple congenital anomalies
CUI: C0000772
Disease: Multiple congenital anomalies
350 1.000 17 76733042 frameshift variant -/A delins 7.0E-06 0.700 1.000 2 2014 2014
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
579 1.000 17 76733042 frameshift variant -/A delins 7.0E-06 0.700 1.000 2 2014 2014