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: rs267607089
rs267607089 		1.000 14 77555331 missense variant C/A snv
CUI: C3150896
Disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC 		0.800 1.000 5 2010 2016
dbSNP: rs267607090
rs267607090 		1.000 14 77555401 missense variant C/T snv 7.0E-06
CUI: C3150896
Disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC 		0.800 1.000 3 2010 2016
dbSNP: rs864621998
rs864621998 		1.000 14 77576854 missense variant C/G snv
CUI: C3150896
Disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC 		0.800 1.000 3 2010 2016
dbSNP: rs775437084
rs775437084 		0.925 0.080 14 77576851 missense variant G/A snv 1.2E-05
CUI: C3150896
Disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC 		0.800 1.000 2 2016 2017
dbSNP: rs267607091
rs267607091 		0.882 0.080 14 77518097 missense variant T/A snv
CUI: C3150896
Disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC 		0.700 1.000 3 2010 2016
dbSNP: rs17105886
rs17105886 		14 77506753 3 prime UTR variant T/C snv 6.0E-02
CUI: C0200635
Disease: Lymphocyte Count measurement
Lymphocyte Count measurement 		0.700 1.000 1 2012 2012
dbSNP: rs267607091
rs267607091 		0.882 0.080 14 77518097 missense variant T/A snv
CUI: C4016942
Disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC, SEVERE
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC, SEVERE 		0.700 0
dbSNP: rs1131691917
rs1131691917 		0.925 0.080 14 77576869 missense variant T/C snv
CUI: C0259749
Disease: Autonomic neuropathy
Autonomic neuropathy 		Nervous System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs1131691917
rs1131691917 		0.925 0.080 14 77576869 missense variant T/C snv
CUI: C0020071
Disease: Hereditary Sensory Autonomic Neuropathy, Type 1
Hereditary Sensory Autonomic Neuropathy, Type 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs267607091
rs267607091 		0.882 0.080 14 77518097 missense variant T/A snv
CUI: C0020071
Disease: Hereditary Sensory Autonomic Neuropathy, Type 1
Hereditary Sensory Autonomic Neuropathy, Type 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 1.000 1 2013 2013
dbSNP: rs775437084
rs775437084 		0.925 0.080 14 77576851 missense variant G/A snv 1.2E-05
CUI: C0699739
Disease: Sensory Neuropathy, Hereditary
Sensory Neuropathy, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 1.000 1 2016 2016