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: rs369353892
rs369353892 		1.000 0.080 1 156879261 missense variant C/T snv 8.0E-06 2.1E-05
CUI: C0020074
Disease: HSAN Type IV
HSAN Type IV 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 14 1996 2017
dbSNP: rs80356677
rs80356677 		1.000 0.080 1 156879336 missense variant G/T snv 4.1E-06
CUI: C0020074
Disease: HSAN Type IV
HSAN Type IV 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.800 1.000 14 1996 2017
dbSNP: rs914061514
rs914061514 		1.000 0.080 1 156879365 splice region variant A/C snv 4.2E-06
CUI: C0020074
Disease: HSAN Type IV
HSAN Type IV 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 2 1996 2009
dbSNP: rs747711259
rs747711259 		1.000 0.080 1 156868568 missense variant T/C snv 1.4E-05
CUI: C0020074
Disease: HSAN Type IV
HSAN Type IV 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.810 1.000 5 1999 2016
dbSNP: rs1558104865
rs1558104865 		1.000 0.080 1 156874568 splice acceptor variant CAG/- del
CUI: C0020074
Disease: HSAN Type IV
HSAN Type IV 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 1 2000 2000
dbSNP: rs759637817
rs759637817 		1.000 0.080 1 156881532 missense variant C/T snv 1.4E-05
CUI: C0020074
Disease: HSAN Type IV
HSAN Type IV 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.710 1.000 3 2001 2017
dbSNP: rs764171953
rs764171953 		1.000 0.080 1 156874570 splice acceptor variant G/A snv 4.0E-06
CUI: C0020074
Disease: HSAN Type IV
HSAN Type IV 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 1 2001 2001
dbSNP: rs1293540396
rs1293540396 		1.000 1 156868557 synonymous variant C/T snv 1.8E-05 2.8E-05
CUI: C1833929
Disease: THYROID CARCINOMA, SPORADIC MEDULLARY
THYROID CARCINOMA, SPORADIC MEDULLARY 		0.010 1.000 1 2002 2002
dbSNP: rs6334
rs6334 		1.000 0.080 1 156876441 missense variant G/A;C;T snv 0.22; 4.0E-06
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2003 2003
dbSNP: rs775984846
rs775984846 		1.000 1 156881535 missense variant G/A;C snv 3.5E-05
CUI: C1833929
Disease: THYROID CARCINOMA, SPORADIC MEDULLARY
THYROID CARCINOMA, SPORADIC MEDULLARY 		0.020 1.000 2 2006 2008
dbSNP: rs374918502
rs374918502 		0.925 0.080 1 156880056 missense variant C/T snv 6.0E-05 7.6E-06
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		Neoplasms 0.010 1.000 1 2008 2008
dbSNP: rs374918502
rs374918502 		0.925 0.080 1 156880056 missense variant C/T snv 6.0E-05 7.6E-06
CUI: C4551683
Disease: Adrenal Gland Pheochromocytoma
Adrenal Gland Pheochromocytoma 		Neoplasms; Endocrine System Diseases 0.010 1.000 1 2008 2008
dbSNP: rs6336
rs6336 		0.827 0.120 1 156879126 missense variant C/T snv 4.2E-02 3.7E-02
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2008 2008
dbSNP: rs775984846
rs775984846 		1.000 1 156881535 missense variant G/A;C snv 3.5E-05
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.010 < 0.001 1 2008 2008
dbSNP: rs926103
rs926103 		0.925 0.120 1 156815190 missense variant T/C snv 0.64 0.57
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		Immune System Diseases; Nervous System Diseases 0.010 1.000 1 2008 2008
dbSNP: rs6336
rs6336 		0.827 0.120 1 156879126 missense variant C/T snv 4.2E-02 3.7E-02
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma 		Neoplasms 0.010 1.000 1 2009 2009
dbSNP: rs6336
rs6336 		0.827 0.120 1 156879126 missense variant C/T snv 4.2E-02 3.7E-02
CUI: C4086165
Disease: Childhood Neuroblastoma
Childhood Neuroblastoma 		Neoplasms 0.010 1.000 1 2009 2009
dbSNP: rs6336
rs6336 		0.827 0.120 1 156879126 missense variant C/T snv 4.2E-02 3.7E-02
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		Neoplasms; Nervous System Diseases 0.010 1.000 1 2009 2009
dbSNP: rs781698345
rs781698345 		1 156873882 missense variant T/C snv 4.8E-06 2.1E-05
CUI: C0027889
Disease: Hereditary Sensory and Autonomic Neuropathies
Hereditary Sensory and Autonomic Neuropathies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 1.000 1 2009 2009
dbSNP: rs748653984
rs748653984 		1.000 0.080 1 156868159 missense variant T/A;C snv 4.0E-06; 4.0E-06
CUI: C0020075
Disease: Hereditary Sensory Autonomic Neuropathy, Type 5
Hereditary Sensory Autonomic Neuropathy, Type 5 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.030 1.000 3 2010 2018
dbSNP: rs778056858
rs778056858 		1.000 0.080 1 156866944 missense variant T/C snv 8.0E-06 7.0E-06
CUI: C0020075
Disease: Hereditary Sensory Autonomic Neuropathy, Type 5
Hereditary Sensory Autonomic Neuropathy, Type 5 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.030 1.000 3 2010 2018
dbSNP: rs748653984
rs748653984 		1.000 0.080 1 156868159 missense variant T/A;C snv 4.0E-06; 4.0E-06
CUI: C0030193
Disease: Pain
Pain 		Pathological Conditions, Signs and Symptoms 0.020 1.000 2 2010 2011
dbSNP: rs778056858
rs778056858 		1.000 0.080 1 156866944 missense variant T/C snv 8.0E-06 7.0E-06
CUI: C0030193
Disease: Pain
Pain 		Pathological Conditions, Signs and Symptoms 0.020 1.000 2 2010 2011
dbSNP: rs769854785
rs769854785 		1 156871656 synonymous variant C/T snv
CUI: C0030193
Disease: Pain
Pain 		Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2010 2010
dbSNP: rs12756019
rs12756019 		1 156830120 intron variant G/A snv 0.53
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure 		0.700 1.000 1 2011 2011