rs863224880, IGHMBP2

N. diseases: 7
Source: ALL
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.
Blepharoptosis
CUI: C0005745
Disease: Blepharoptosis
57 0.925 0.160 11 68906074 stop gained G/A snv 0.700 0
Clonus
CUI: C0009024
Disease: Clonus
4 0.925 0.160 11 68906074 stop gained G/A snv 0.700 0
Hyperreflexia
CUI: C0151889
Disease: Hyperreflexia
19 0.925 0.160 11 68906074 stop gained G/A snv 0.700 0
Pediatric failure to thrive
CUI: C2315100
Disease: Pediatric failure to thrive
122 0.925 0.160 11 68906074 stop gained G/A snv 0.700 0
Respiratory distress
CUI: C0476273
Disease: Respiratory distress
16 0.925 0.160 11 68906074 stop gained G/A snv 0.700 0
Severe muscular hypotonia
CUI: C1839630
Disease: Severe muscular hypotonia
9 0.925 0.160 11 68906074 stop gained G/A snv 0.700 0
Tachypnea
CUI: C0231835
Disease: Tachypnea
5 0.925 0.160 11 68906074 stop gained G/A snv 0.700 0