Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs121908557
rs121908557
SCN4A ; LOC105371858
0.752 0.280 17 63957514 missense variant C/T snv 8.2E-06 1.4E-05
CUI: C0238357
Disease: Hyperkalemic periodic paralysis
Hyperkalemic periodic paralysis 		0.800 1.000 8 2004 2015
dbSNP: rs121908557
rs121908557
SCN4A ; LOC105371858
0.752 0.280 17 63957514 missense variant C/T snv 8.2E-06 1.4E-05
CUI: C1868433
Disease: Normokalemic Periodic Paralysis, Potassium-Sensitive
Normokalemic Periodic Paralysis, Potassium-Sensitive 		0.700 1.000 8 2004 2015
dbSNP: rs121908557
rs121908557
SCN4A ; LOC105371858
0.752 0.280 17 63957514 missense variant C/T snv 8.2E-06 1.4E-05
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay 		0.700 1.000 2 2004 2008
dbSNP: rs121908557
rs121908557
SCN4A ; LOC105371858
0.752 0.280 17 63957514 missense variant C/T snv 8.2E-06 1.4E-05
CUI: C4025710
Disease: Diminished movement
Diminished movement 		0.700 1.000 2 2004 2008
dbSNP: rs121908557
rs121908557
SCN4A ; LOC105371858
0.752 0.280 17 63957514 missense variant C/T snv 8.2E-06 1.4E-05
CUI: C4072903
Disease: Primary Caesarian section
Primary Caesarian section 		0.700 1.000 2 2004 2008
dbSNP: rs121908557
rs121908557
SCN4A ; LOC105371858
0.752 0.280 17 63957514 missense variant C/T snv 8.2E-06 1.4E-05
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects 		0.700 1.000 2 2004 2008
dbSNP: rs121908557
rs121908557
SCN4A ; LOC105371858
0.752 0.280 17 63957514 missense variant C/T snv 8.2E-06 1.4E-05
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		0.700 1.000 2 2004 2008
dbSNP: rs121908557
rs121908557
SCN4A ; LOC105371858
0.752 0.280 17 63957514 missense variant C/T snv 8.2E-06 1.4E-05
CUI: C0011168
Disease: Deglutition Disorders
Deglutition Disorders 		0.700 1.000 2 2004 2008
dbSNP: rs121908557
rs121908557
SCN4A ; LOC105371858
0.752 0.280 17 63957514 missense variant C/T snv 8.2E-06 1.4E-05
CUI: C0239234
Disease: Low set ears
Low set ears 		0.700 1.000 2 2004 2008
dbSNP: rs121908557
rs121908557
SCN4A ; LOC105371858
0.752 0.280 17 63957514 missense variant C/T snv 8.2E-06 1.4E-05
CUI: C0399572
Disease: Hypoplasia of mandibular condyle
Hypoplasia of mandibular condyle 		0.700 1.000 2 2004 2008
dbSNP: rs121908557
rs121908557
SCN4A ; LOC105371858
0.752 0.280 17 63957514 missense variant C/T snv 8.2E-06 1.4E-05
CUI: C0235991
Disease: Small for gestational age (disorder)
Small for gestational age (disorder) 		0.700 1.000 2 2004 2008
dbSNP: rs121908557
rs121908557
SCN4A ; LOC105371858
0.752 0.280 17 63957514 missense variant C/T snv 8.2E-06 1.4E-05
CUI: C2267233
Disease: Neonatal Hypotonia
Neonatal Hypotonia 		0.700 1.000 2 2004 2008
dbSNP: rs121908557
rs121908557
SCN4A ; LOC105371858
0.752 0.280 17 63957514 missense variant C/T snv 8.2E-06 1.4E-05
CUI: C1386048
Disease: Intrauterine retardation
Intrauterine retardation 		0.700 1.000 2 2004 2008
dbSNP: rs121908557
rs121908557
SCN4A ; LOC105371858
0.752 0.280 17 63957514 missense variant C/T snv 8.2E-06 1.4E-05
CUI: C1843700
Disease: Increased variability in muscle fiber diameter
Increased variability in muscle fiber diameter 		0.700 1.000 2 2004 2008
dbSNP: rs121908557
rs121908557
SCN4A ; LOC105371858
0.752 0.280 17 63957514 missense variant C/T snv 8.2E-06 1.4E-05
CUI: C4023342
Disease: Gastrostomy tube feeding in infancy
Gastrostomy tube feeding in infancy 		0.700 1.000 2 2004 2008
dbSNP: rs121908557
rs121908557
SCN4A ; LOC105371858
0.752 0.280 17 63957514 missense variant C/T snv 8.2E-06 1.4E-05
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		0.700 1.000 2 2004 2008
dbSNP: rs121908557
rs121908557
SCN4A ; LOC105371858
0.752 0.280 17 63957514 missense variant C/T snv 8.2E-06 1.4E-05
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		0.700 1.000 2 2004 2008
dbSNP: rs121908557
rs121908557
SCN4A ; LOC105371858
0.752 0.280 17 63957514 missense variant C/T snv 8.2E-06 1.4E-05
CUI: C0549629
Disease: Abnormal delivery
Abnormal delivery 		0.700 1.000 2 2004 2008
dbSNP: rs121908557
rs121908557
SCN4A ; LOC105371858
0.752 0.280 17 63957514 missense variant C/T snv 8.2E-06 1.4E-05
CUI: C0026848
Disease: Myopathy
Myopathy 		0.700 1.000 2 2004 2008