rs1426926688, LAMC3

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 9 131038920 frameshift variant AGCACAG/- del 8.0E-06 1.4E-05 0.700 1.000 2 2011 2015
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
579 1.000 9 131038920 frameshift variant AGCACAG/- del 8.0E-06 1.4E-05 0.700 1.000 2 2011 2015