rs1561498701, SMN1;SMN2

N. diseases: 5
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.
Absent reflex
CUI: C0234146
Disease: Absent reflex
16 1.000 0.080 5 70925150 frameshift variant -/GGATTCCG delins 0.700 1.000 1 2013 2013
Fasciculation, Tongue
CUI: C0239548
Disease: Fasciculation, Tongue
7 1.000 0.080 5 70925150 frameshift variant -/GGATTCCG delins 0.700 1.000 1 2013 2013
Generalized hypotonia
CUI: C1858120
Disease: Generalized hypotonia
164 1.000 0.080 5 70925150 frameshift variant -/GGATTCCG delins 0.700 1.000 1 2013 2013
Muscular Atrophy, Spinal, Type II
CUI: C0393538
Disease: Muscular Atrophy, Spinal, Type II
9 1.000 0.080 5 70925150 frameshift variant -/GGATTCCG delins 0.700 1.000 1 2013 2013
Severe muscular hypotonia
CUI: C1839630
Disease: Severe muscular hypotonia
9 1.000 0.080 5 70925150 frameshift variant -/GGATTCCG delins 0.700 1.000 1 2013 2013