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: rs7587928
rs7587928 		2 8808940 intron variant T/C snv 0.29
CUI: C0200633
Disease: Neutrophil count (procedure)
Neutrophil count (procedure) 		0.800 1.000 1 2011 2011
dbSNP: rs1057519300
rs1057519300 		1.000 2 8733447 stop gained C/T snv
CUI: C4284592
Disease: SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY
SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY 		0.700 0
dbSNP: rs1057519301
rs1057519301 		1.000 2 8731940 stop gained G/A snv
CUI: C4284592
Disease: SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY
SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY 		0.700 0
dbSNP: rs1057519302
rs1057519302 		1.000 2 8731515 frameshift variant -/A delins
CUI: C4284592
Disease: SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY
SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY 		0.700 0
dbSNP: rs1131692229
rs1131692229 		0.851 0.120 2 8730956 frameshift variant GT/- delins
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs1131692229
rs1131692229 		0.851 0.120 2 8730956 frameshift variant GT/- delins
CUI: C0042798
Disease: Low Vision
Low Vision 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1131692229
rs1131692229 		0.851 0.120 2 8730956 frameshift variant GT/- delins
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		0.700 0
dbSNP: rs1131692229
rs1131692229 		0.851 0.120 2 8730956 frameshift variant GT/- delins
CUI: C1853241
Disease: Flat face
Flat face 		0.700 0
dbSNP: rs1131692229
rs1131692229 		0.851 0.120 2 8730956 frameshift variant GT/- delins
CUI: C1837260
Disease: Prominent forehead
Prominent forehead 		0.700 0
dbSNP: rs1131692229
rs1131692229 		0.851 0.120 2 8730956 frameshift variant GT/- delins
CUI: C4021866
Disease: obsolete Abnormal heart morphology
obsolete Abnormal heart morphology 		0.700 0
dbSNP: rs1131692229
rs1131692229 		0.851 0.120 2 8730956 frameshift variant GT/- delins
CUI: C1398312
Disease: Narrow palate
Narrow palate 		0.700 0
dbSNP: rs1131692229
rs1131692229 		0.851 0.120 2 8730956 frameshift variant GT/- delins
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs1131692229
rs1131692229 		0.851 0.120 2 8730956 frameshift variant GT/- delins
CUI: C4284592
Disease: SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY
SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY 		0.700 0
dbSNP: rs1131692229
rs1131692229 		0.851 0.120 2 8730956 frameshift variant GT/- delins
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		0.700 0
dbSNP: rs1131692229
rs1131692229 		0.851 0.120 2 8730956 frameshift variant GT/- delins
CUI: C0018808
Disease: Heart murmur
Heart murmur 		Pathological Conditions, Signs and Symptoms 0.700 0
dbSNP: rs1553305080
rs1553305080 		1.000 2 8731898 stop gained G/A snv
CUI: C4284592
Disease: SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY
SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY 		0.700 0
dbSNP: rs201478192
rs201478192 		0.790 0.200 2 8731667 missense variant C/A snv 2.4E-04 2.6E-04
CUI: C1292778
Disease: Chronic myeloproliferative disorder
Chronic myeloproliferative disorder 		Neoplasms; Hemic and Lymphatic Diseases 0.070 1.000 7 2006 2019
dbSNP: rs201478192
rs201478192 		0.790 0.200 2 8731667 missense variant C/A snv 2.4E-04 2.6E-04
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease 		Hemic and Lymphatic Diseases 0.070 0.857 7 2006 2019
dbSNP: rs201478192
rs201478192 		0.790 0.200 2 8731667 missense variant C/A snv 2.4E-04 2.6E-04
CUI: C0040028
Disease: Thrombocythemia, Essential
Thrombocythemia, Essential 		Hemic and Lymphatic Diseases 0.050 1.000 5 2009 2015
dbSNP: rs201478192
rs201478192 		0.790 0.200 2 8731667 missense variant C/A snv 2.4E-04 2.6E-04
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis 		Hemic and Lymphatic Diseases 0.040 1.000 4 2007 2015
dbSNP: rs201478192
rs201478192 		0.790 0.200 2 8731667 missense variant C/A snv 2.4E-04 2.6E-04
CUI: C0032463
Disease: Polycythemia Vera
Polycythemia Vera 		Neoplasms; Hemic and Lymphatic Diseases 0.040 1.000 4 2013 2015
dbSNP: rs1440063914
rs1440063914 		0.925 0.080 2 8779781 missense variant T/C snv
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.020 1.000 2 2001 2004
dbSNP: rs201478192
rs201478192 		0.790 0.200 2 8731667 missense variant C/A snv 2.4E-04 2.6E-04
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.020 1.000 2 2007 2013
dbSNP: rs759435862
rs759435862 		0.925 0.080 2 8776852 missense variant C/A;T snv 2.0E-05
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma 		Neoplasms 0.020 1.000 2 2011 2016
dbSNP: rs1027009063
rs1027009063 		0.925 0.040 2 8802974 stop gained G/A snv
CUI: C0031099
Disease: Periodontitis
Periodontitis 		Stomatognathic Diseases 0.010 1.000 1 2019 2019