SNX5, sorting nexin 5, 27131

N. diseases: 24; N. variants: 3
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: rs1555789140
rs1555789140 		0.882 0.120 20 17970217 frameshift variant C/- delins
CUI: C3554462
Disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 11
MITOCHONDRIAL DNA DEPLETION SYNDROME 11 		0.700 1.000 1 2017 2017
dbSNP: rs1555789140
rs1555789140 		0.882 0.120 20 17970217 frameshift variant C/- delins
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		0.700 1.000 1 2017 2017
dbSNP: rs1555789140
rs1555789140 		0.882 0.120 20 17970217 frameshift variant C/- delins
CUI: C0393525
Disease: Progressive cerebellar ataxia
Progressive cerebellar ataxia 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 1 2017 2017
dbSNP: rs1555789140
rs1555789140 		0.882 0.120 20 17970217 frameshift variant C/- delins
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.700 1.000 1 2017 2017
dbSNP: rs17802375
rs17802375 		20 17958239 intron variant G/A snv 9.9E-02
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		0.700 1.000 1 2019 2019
dbSNP: rs587776943
rs587776943 		1.000 20 17970315 stop gained G/A snv 4.0E-06
CUI: C3554462
Disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 11
MITOCHONDRIAL DNA DEPLETION SYNDROME 11 		0.700 0