rs912001256, SCN4A

N. diseases: 17
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 0.240 17 63947062 stop gained G/A snv 0.700 0
Anteverted nostril
CUI: C1840077
Disease: Anteverted nostril
35 0.851 0.240 17 63947062 stop gained G/A snv 0.700 0
Atrial Septal Defects
CUI: C0018817
Disease: Atrial Septal Defects
96 0.851 0.240 17 63947062 stop gained G/A snv 0.700 0
Byzanthine arch palate
CUI: C0240635
Disease: Byzanthine arch palate
70 0.851 0.240 17 63947062 stop gained G/A snv 0.700 0
Deglutition Disorders
CUI: C0011168
Disease: Deglutition Disorders
50 0.851 0.240 17 63947062 stop gained G/A snv 0.700 0
Diminished movement
CUI: C4025710
Disease: Diminished movement
4 0.851 0.240 17 63947062 stop gained G/A snv 0.700 0
Gastrostomy tube feeding in infancy
CUI: C4023342
Disease: Gastrostomy tube feeding in infancy
19 0.851 0.240 17 63947062 stop gained G/A snv 0.700 0
Gross motor development delay
CUI: C1837658
Disease: Gross motor development delay
59 0.851 0.240 17 63947062 stop gained G/A snv 0.700 0
Hypoplasia of mandibular condyle
CUI: C0399572
Disease: Hypoplasia of mandibular condyle
2 0.851 0.240 17 63947062 stop gained G/A snv 0.700 0
Increased variability in muscle fiber diameter
CUI: C1843700
Disease: Increased variability in muscle fiber diameter
4 0.851 0.240 17 63947062 stop gained G/A snv 0.700 0
Intrauterine retardation
CUI: C1386048
Disease: Intrauterine retardation
56 0.851 0.240 17 63947062 stop gained G/A snv 0.700 0
Low set ears
CUI: C0239234
Disease: Low set ears
64 0.851 0.240 17 63947062 stop gained G/A snv 0.700 0
Myopathy
CUI: C0026848
Disease: Myopathy
166 0.851 0.240 17 63947062 stop gained G/A snv 0.700 0
Neonatal Hypotonia
CUI: C2267233
Disease: Neonatal Hypotonia
45 0.851 0.240 17 63947062 stop gained G/A snv 0.700 0
Primary Caesarian section
CUI: C4072903
Disease: Primary Caesarian section
15 0.851 0.240 17 63947062 stop gained G/A snv 0.700 0
Small for gestational age (disorder)
CUI: C0235991
Disease: Small for gestational age (disorder)
34 0.851 0.240 17 63947062 stop gained G/A snv 0.700 0
Ventricular Septal Defects
CUI: C0018818
Disease: Ventricular Septal Defects
87 0.851 0.240 17 63947062 stop gained G/A snv 0.700 0