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: rs17262792
rs17262792 		1.000 0.080 4 92997722 intron variant T/C snv 9.1E-02
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 1 2010 2010
dbSNP: rs1972860
rs1972860 		4 93658489 intron variant G/A snv 0.40
CUI: C0021704
Disease: Intelligence
Intelligence 		Behavior and Behavior Mechanisms 0.700 1.000 1 2018 2018
dbSNP: rs1972863
rs1972863 		4 93658360 intron variant G/A snv 0.40
CUI: C0596887
Disease: mathematical ability
mathematical ability 		0.700 1.000 1 2018 2018
dbSNP: rs1972863
rs1972863 		4 93658360 intron variant G/A snv 0.40
CUI: C0021704
Disease: Intelligence
Intelligence 		Behavior and Behavior Mechanisms 0.700 1.000 1 2019 2019
dbSNP: rs2870710
rs2870710 		4 93490455 intron variant G/A;C;T snv
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 1 2019 2019
dbSNP: rs4693327
rs4693327 		4 93510393 intron variant G/C;T snv
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 1 2019 2019
dbSNP: rs7655333
rs7655333 		4 93501959 intron variant C/T snv 0.84
CUI: C0021704
Disease: Intelligence
Intelligence 		Behavior and Behavior Mechanisms 0.700 1.000 1 2018 2018
dbSNP: rs368143665
rs368143665 		1.000 4 93110889 missense variant G/A snv 8.0E-06 1.4E-05
CUI: C4015505
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18 		0.700 0
dbSNP: rs750331613
rs750331613 		0.882 0.040 4 93515346 missense variant C/T snv 4.8E-05 2.1E-05
CUI: C4015505
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18 		0.700 0
dbSNP: rs750331613
rs750331613 		0.882 0.040 4 93515346 missense variant C/T snv 4.8E-05 2.1E-05
CUI: C1848207
Disease: Poor speech
Poor speech 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs750331613
rs750331613 		0.882 0.040 4 93515346 missense variant C/T snv 4.8E-05 2.1E-05
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs750331613
rs750331613 		0.882 0.040 4 93515346 missense variant C/T snv 4.8E-05 2.1E-05
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		Mental Disorders 0.700 0
dbSNP: rs750331613
rs750331613 		0.882 0.040 4 93515346 missense variant C/T snv 4.8E-05 2.1E-05
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		0.700 0
dbSNP: rs1450500
rs1450500 		1.000 0.200 4 92558124 intron variant A/G snv 0.69
CUI: C3714772
Disease: Recurrent fevers
Recurrent fevers 		0.010 1.000 1 2015 2015
dbSNP: rs1450500
rs1450500 		1.000 0.200 4 92558124 intron variant A/G snv 0.69
CUI: C0342731
Disease: Deficiency of mevalonate kinase
Deficiency of mevalonate kinase 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2015 2015