RETREG1, reticulophagy regulator 1, 54463

N. diseases: 89; N. variants: 6
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: rs75869162
rs75869162 		5 16617813 splice region variant G/A snv 2.2E-03
CUI: C0202239
Disease: Uric acid measurement (procedure)
Uric acid measurement (procedure) 		0.700 1.000 1 2017 2017
dbSNP: rs137852736
rs137852736 		1.000 0.080 5 16616953 frameshift variant AG/- delins 7.0E-06
CUI: C0020072
Disease: Hereditary Sensory Autonomic Neuropathy, Type 2
Hereditary Sensory Autonomic Neuropathy, Type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs137852737
rs137852737 		0.925 0.080 5 16565788 stop gained G/A snv
CUI: C2751092
Disease: Neuropathy, Hereditary Sensory And Autonomic, Type IIB
Neuropathy, Hereditary Sensory And Autonomic, Type IIB 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs137852737
rs137852737 		0.925 0.080 5 16565788 stop gained G/A snv
CUI: C0020072
Disease: Hereditary Sensory Autonomic Neuropathy, Type 2
Hereditary Sensory Autonomic Neuropathy, Type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs137852738
rs137852738 		1.000 0.080 5 16478032 splice donor variant A/G snv
CUI: C0020072
Disease: Hereditary Sensory Autonomic Neuropathy, Type 2
Hereditary Sensory Autonomic Neuropathy, Type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs137852739
rs137852739 		0.925 0.080 5 16477736 stop gained G/A;C snv 4.0E-06
CUI: C2751092
Disease: Neuropathy, Hereditary Sensory And Autonomic, Type IIB
Neuropathy, Hereditary Sensory And Autonomic, Type IIB 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs137852739
rs137852739 		0.925 0.080 5 16477736 stop gained G/A;C snv 4.0E-06
CUI: C0020072
Disease: Hereditary Sensory Autonomic Neuropathy, Type 2
Hereditary Sensory Autonomic Neuropathy, Type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs886037748
rs886037748 		1.000 0.080 5 16478081 frameshift variant T/- delins
CUI: C2751092
Disease: Neuropathy, Hereditary Sensory And Autonomic, Type IIB
Neuropathy, Hereditary Sensory And Autonomic, Type IIB 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0