rs1421405659, MYBPC1

N. diseases: 13
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.
Abnormal delivery
CUI: C0549629
Disease: Abnormal delivery
37 0.851 0.360 12 101642529 missense variant T/C;G snv 0.700 0
Fasciculation, Tongue
CUI: C0239548
Disease: Fasciculation, Tongue
7 0.851 0.360 12 101642529 missense variant T/C;G snv 0.700 0
Laryngeal web
CUI: C0281890
Disease: Laryngeal web
2 0.851 0.360 12 101642529 missense variant T/C;G snv 0.700 0
Laryngomalacia
CUI: C0264303
Disease: Laryngomalacia
18 0.851 0.360 12 101642529 missense variant T/C;G snv 0.700 0
Neonatal Hypotonia
CUI: C2267233
Disease: Neonatal Hypotonia
45 0.851 0.360 12 101642529 missense variant T/C;G snv 0.700 0
Neonatal inspiratory stridor
CUI: C4025281
Disease: Neonatal inspiratory stridor
1 0.851 0.360 12 101642529 missense variant T/C;G snv 0.700 0
Neonatal respiratory distress
CUI: C4281993
Disease: Neonatal respiratory distress
34 0.851 0.360 12 101642529 missense variant T/C;G snv 0.700 0
Pediatric failure to thrive
CUI: C2315100
Disease: Pediatric failure to thrive
122 0.851 0.360 12 101642529 missense variant T/C;G snv 0.700 0
Poor head control
CUI: C1836038
Disease: Poor head control
13 0.851 0.360 12 101642529 missense variant T/C;G snv 0.700 0
Poor suck
CUI: C1837142
Disease: Poor suck
31 0.851 0.360 12 101642529 missense variant T/C;G snv 0.700 0
Secondary Caesarian section
CUI: C4072904
Disease: Secondary Caesarian section
13 0.851 0.360 12 101642529 missense variant T/C;G snv 0.700 0
Severe global developmental delay
CUI: C1837397
Disease: Severe global developmental delay
50 0.851 0.360 12 101642529 missense variant T/C;G snv 0.700 0
Tremor
CUI: C0040822
Disease: Tremor
52 0.851 0.360 12 101642529 missense variant T/C;G snv 0.700 0