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: rs382745
rs382745 		16 89537178 3 prime UTR variant A/G snv 0.47
CUI: C0200635
Disease: Lymphocyte Count measurement
Lymphocyte Count measurement 		0.700 1.000 1 2012 2012
dbSNP: rs4785574
rs4785574 		16 89502467 intron variant A/C;G snv
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs1217391623
rs1217391623 		0.882 0.160 16 89556976 frameshift variant G/- del 7.0E-06
CUI: C0549629
Disease: Abnormal delivery
Abnormal delivery 		0.700 0
dbSNP: rs1217391623
rs1217391623 		0.882 0.160 16 89556976 frameshift variant G/- del 7.0E-06
CUI: C4072903
Disease: Primary Caesarian section
Primary Caesarian section 		0.700 0
dbSNP: rs1217391623
rs1217391623 		0.882 0.160 16 89556976 frameshift variant G/- del 7.0E-06
CUI: C0029131
Disease: Abnormality of the optic nerve
Abnormality of the optic nerve 		0.700 0
dbSNP: rs61755320
rs61755320 		0.716 0.520 16 89546737 missense variant C/T snv 2.9E-03 3.5E-03
CUI: C0549629
Disease: Abnormal delivery
Abnormal delivery 		0.700 0
dbSNP: rs61755320
rs61755320 		0.716 0.520 16 89546737 missense variant C/T snv 2.9E-03 3.5E-03
CUI: C4551583
Disease: Cerebral cortical atrophy
Cerebral cortical atrophy 		0.700 0
dbSNP: rs61755320
rs61755320 		0.716 0.520 16 89546737 missense variant C/T snv 2.9E-03 3.5E-03
CUI: C1867864
Disease: Poor fine motor coordination
Poor fine motor coordination 		0.700 0
dbSNP: rs61755320
rs61755320 		0.716 0.520 16 89546737 missense variant C/T snv 2.9E-03 3.5E-03
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.700 0
dbSNP: rs61755320
rs61755320 		0.716 0.520 16 89546737 missense variant C/T snv 2.9E-03 3.5E-03
CUI: C1854699
Disease: Diffuse cerebellar atrophy
Diffuse cerebellar atrophy 		0.700 0
dbSNP: rs61755320
rs61755320 		0.716 0.520 16 89546737 missense variant C/T snv 2.9E-03 3.5E-03
CUI: C0238651
Disease: Ankle clonus
Ankle clonus 		0.700 0
dbSNP: rs61755320
rs61755320 		0.716 0.520 16 89546737 missense variant C/T snv 2.9E-03 3.5E-03
CUI: C3887485
Disease: MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 1
MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 1 		0.700 0
dbSNP: rs61755320
rs61755320 		0.716 0.520 16 89546737 missense variant C/T snv 2.9E-03 3.5E-03
CUI: C4072903
Disease: Primary Caesarian section
Primary Caesarian section 		0.700 0
dbSNP: rs61755320
rs61755320 		0.716 0.520 16 89546737 missense variant C/T snv 2.9E-03 3.5E-03
CUI: C0029131
Disease: Abnormality of the optic nerve
Abnormality of the optic nerve 		0.700 0
dbSNP: rs61755320
rs61755320 		0.716 0.520 16 89546737 missense variant C/T snv 2.9E-03 3.5E-03
CUI: C1112256
Disease: Sensorimotor neuropathy
Sensorimotor neuropathy 		0.700 0
dbSNP: rs61755320
rs61755320 		0.716 0.520 16 89546737 missense variant C/T snv 2.9E-03 3.5E-03
CUI: C0556280
Disease: Gross motor impairment
Gross motor impairment 		0.700 0
dbSNP: rs61755320
rs61755320 		0.716 0.520 16 89546737 missense variant C/T snv 2.9E-03 3.5E-03
CUI: C3151619
Disease: ATAXIA, SPASTIC, CHILDHOOD-ONSET, AUTOSOMAL RECESSIVE, WITH OPTIC ATROPHY AND MENTAL RETARDATION
ATAXIA, SPASTIC, CHILDHOOD-ONSET, AUTOSOMAL RECESSIVE, WITH OPTIC ATROPHY AND MENTAL RETARDATION 		0.700 0
dbSNP: rs61755320
rs61755320 		0.716 0.520 16 89546737 missense variant C/T snv 2.9E-03 3.5E-03
CUI: C4025573
Disease: Increased muscle fatiguability
Increased muscle fatiguability 		0.700 0
dbSNP: rs768823392
rs768823392 		0.827 0.120 16 89546657 coding sequence variant GGCGGGAGA/- delins 2.6E-04 4.2E-04
CUI: C4551583
Disease: Cerebral cortical atrophy
Cerebral cortical atrophy 		0.700 0
dbSNP: rs141659620
rs141659620 		0.882 0.160 16 89531961 missense variant G/A;C snv 8.3E-04; 8.0E-06
CUI: C1846564
Disease: SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.800 1.000 16 1998 2016
dbSNP: rs61755320
rs61755320 		0.716 0.520 16 89546737 missense variant C/T snv 2.9E-03 3.5E-03
CUI: C0037773
Disease: Spastic Paraplegia, Hereditary
Spastic Paraplegia, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.720 1.000 15 2006 2018
dbSNP: rs768823392
rs768823392 		0.827 0.120 16 89546657 coding sequence variant GGCGGGAGA/- delins 2.6E-04 4.2E-04
CUI: C1846564
Disease: SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 9 2001 2016
dbSNP: rs61755320
rs61755320 		0.716 0.520 16 89546737 missense variant C/T snv 2.9E-03 3.5E-03
CUI: C1846564
Disease: SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.800 1.000 8 2006 2016
dbSNP: rs760818649
rs760818649 		0.925 0.080 16 89531963 frameshift variant C/-;CC delins
CUI: C1846564
Disease: SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 6 2008 2015
dbSNP: rs760818649
rs760818649 		0.925 0.080 16 89531963 frameshift variant C/-;CC delins
CUI: C0037773
Disease: Spastic Paraplegia, Hereditary
Spastic Paraplegia, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 6 2008 2017