HPCA, hippocalcin, 3208

N. diseases: 24; N. variants: 4
Disease: DYSTONIA 2, TORSION, AUTOSOMAL RECESSIVE (disorder) ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs550921485
rs550921485 		1.000 0.080 1 32893848 missense variant G/A snv 4.9E-04 7.0E-05
CUI: C1857093
Disease: DYSTONIA 2, TORSION, AUTOSOMAL RECESSIVE (disorder)
DYSTONIA 2, TORSION, AUTOSOMAL RECESSIVE (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.800 1.000 2 2015 2017
dbSNP: rs775863165
rs775863165 		1.000 0.080 1 32889110 missense variant C/A;T snv 4.0E-06
CUI: C1857093
Disease: DYSTONIA 2, TORSION, AUTOSOMAL RECESSIVE (disorder)
DYSTONIA 2, TORSION, AUTOSOMAL RECESSIVE (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.800 1.000 2 2015 2017
dbSNP: rs786205675
rs786205675 		1.000 0.080 1 32889123 missense variant C/A snv
CUI: C1857093
Disease: DYSTONIA 2, TORSION, AUTOSOMAL RECESSIVE (disorder)
DYSTONIA 2, TORSION, AUTOSOMAL RECESSIVE (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.800 0