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: rs864321670
rs864321670 		0.763 0.320 10 95633012 missense variant C/T snv
CUI: C4225268
Disease: CUTIS LAXA, AUTOSOMAL DOMINANT 3
CUTIS LAXA, AUTOSOMAL DOMINANT 3 		0.700 1.000 2 2015 2016
dbSNP: rs768323248
rs768323248 		0.925 0.080 10 95637357 missense variant C/T snv 1.6E-05 7.0E-06
CUI: C4225272
Disease: SPASTIC PARAPLEGIA 9B, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 9B, AUTOSOMAL RECESSIVE 		0.700 1.000 1 2015 2015
dbSNP: rs869320690
rs869320690 		1.000 10 95613755 missense variant A/G snv
CUI: C4225272
Disease: SPASTIC PARAPLEGIA 9B, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 9B, AUTOSOMAL RECESSIVE 		0.800 1.000 1 2015 2015
dbSNP: rs752669339
rs752669339 		1.000 10 95610260 missense variant C/G snv 1.2E-05 7.0E-06
CUI: C4225272
Disease: SPASTIC PARAPLEGIA 9B, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 9B, AUTOSOMAL RECESSIVE 		0.800 0
dbSNP: rs863225044
rs863225044 		1.000 10 95637328 missense variant G/A snv
CUI: C4225268
Disease: CUTIS LAXA, AUTOSOMAL DOMINANT 3
CUTIS LAXA, AUTOSOMAL DOMINANT 3 		0.800 0
dbSNP: rs863225045
rs863225045 		0.790 0.360 10 95637327 missense variant C/A;T snv
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs863225045
rs863225045 		0.790 0.360 10 95637327 missense variant C/A;T snv
CUI: C3840083
Disease: Late closure of anterior fontanel
Late closure of anterior fontanel 		0.700 0
dbSNP: rs863225045
rs863225045 		0.790 0.360 10 95637327 missense variant C/A;T snv
CUI: C4225268
Disease: CUTIS LAXA, AUTOSOMAL DOMINANT 3
CUTIS LAXA, AUTOSOMAL DOMINANT 3 		0.800 0
dbSNP: rs863225045
rs863225045 		0.790 0.360 10 95637327 missense variant C/A;T snv
CUI: C3553764
Disease: Joint hyperflexibility
Joint hyperflexibility 		0.700 0
dbSNP: rs863225045
rs863225045 		0.790 0.360 10 95637327 missense variant C/A;T snv
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.700 0
dbSNP: rs863225045
rs863225045 		0.790 0.360 10 95637327 missense variant C/A;T snv
CUI: C1859778
Disease: Postnatal growth retardation
Postnatal growth retardation 		0.700 0
dbSNP: rs863225045
rs863225045 		0.790 0.360 10 95637327 missense variant C/A;T snv
CUI: C1386048
Disease: Intrauterine retardation
Intrauterine retardation 		0.700 0
dbSNP: rs864321670
rs864321670 		0.763 0.320 10 95633012 missense variant C/T snv
CUI: C1844820
Disease: Range of joint movement increased
Range of joint movement increased 		0.700 0
dbSNP: rs864321670
rs864321670 		0.763 0.320 10 95633012 missense variant C/T snv
CUI: C1836308
Disease: Generalized joint laxity
Generalized joint laxity 		0.700 0
dbSNP: rs864321670
rs864321670 		0.763 0.320 10 95633012 missense variant C/T snv
CUI: C3887485
Disease: MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 1
MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 1 		0.700 0
dbSNP: rs863225045
rs863225045 		0.790 0.360 10 95637327 missense variant C/A;T snv
CUI: C0009081
Disease: Congenital clubfoot
Congenital clubfoot 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs762271422
rs762271422 		1.000 0.080 10 95606919 missense variant G/A;C snv 8.0E-06; 5.2E-05
CUI: C1849115
Disease: SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE (disorder)
SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs1365573219
rs1365573219 		1.000 0.080 10 95626722 missense variant G/C snv 7.0E-06
CUI: C0268350
Disease: Cutis Laxa, Autosomal Dominant
Cutis Laxa, Autosomal Dominant 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.010 1.000 1 2017 2017
dbSNP: rs768323248
rs768323248 		0.925 0.080 10 95637357 missense variant C/T snv 1.6E-05 7.0E-06
CUI: C0268350
Disease: Cutis Laxa, Autosomal Dominant
Cutis Laxa, Autosomal Dominant 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.010 1.000 1 2017 2017
dbSNP: rs863225045
rs863225045 		0.790 0.360 10 95637327 missense variant C/A;T snv
CUI: C0010495
Disease: Cutis Laxa
Cutis Laxa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs864321670
rs864321670 		0.763 0.320 10 95633012 missense variant C/T snv
CUI: C0728829
Disease: Congenital pes cavus
Congenital pes cavus 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 0
dbSNP: rs863225045
rs863225045 		0.790 0.360 10 95637327 missense variant C/A;T snv
CUI: C0086543
Disease: Cataract
Cataract 		Eye Diseases 0.700 0
dbSNP: rs864321670
rs864321670 		0.763 0.320 10 95633012 missense variant C/T snv
CUI: C0027092
Disease: Myopia
Myopia 		Eye Diseases 0.700 0
dbSNP: rs864321670
rs864321670 		0.763 0.320 10 95633012 missense variant C/T snv
CUI: C0011581
Disease: Depressive disorder
Depressive disorder 		Mental Disorders 0.700 0
dbSNP: rs863225045
rs863225045 		0.790 0.360 10 95637327 missense variant C/A;T snv
CUI: C3554617
Disease: Adducted thumb
Adducted thumb 		Musculoskeletal Diseases 0.700 0