SPART, spartin, 23111

N. diseases: 110; N. variants: 6
Disease: Troyer syndrome ×
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: rs1399213398
rs1399213398 		1.000 0.080 13 36331419 missense variant T/C snv 4.0E-06
CUI: C0393559
Disease: Troyer syndrome
Troyer syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 3 2002 2017
dbSNP: rs775736341
rs775736341 		0.925 0.080 13 36335466 frameshift variant AT/- del 6.8E-05 9.8E-05
CUI: C0393559
Disease: Troyer syndrome
Troyer syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 1 2010 2010
dbSNP: rs1060499524
rs1060499524 		1.000 0.080 13 36329416 frameshift variant T/- delins 4.0E-06 1.4E-05
CUI: C0393559
Disease: Troyer syndrome
Troyer syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs748835312
rs748835312 		1.000 0.080 13 36335146 stop gained G/A;C snv 4.0E-06; 1.2E-05
CUI: C0393559
Disease: Troyer syndrome
Troyer syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0