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: rs879253779
rs879253779 		1.000 1 184072258 missense variant A/G snv
CUI: C4310757
Disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 2F
PONTOCEREBELLAR HYPOPLASIA, TYPE 2F 		0.800 1.000 2 2015 2016
dbSNP: rs879253780
rs879253780 		1.000 1 184054856 missense variant C/T snv 7.0E-06
CUI: C4310757
Disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 2F
PONTOCEREBELLAR HYPOPLASIA, TYPE 2F 		0.800 1.000 2 2015 2016
dbSNP: rs730882223
rs730882223 		0.851 0.120 1 184054736 missense variant T/G snv
CUI: C4310757
Disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 2F
PONTOCEREBELLAR HYPOPLASIA, TYPE 2F 		0.800 0
dbSNP: rs1046934
rs1046934 		1.000 0.080 1 184054395 missense variant A/C;G;T snv 0.34; 4.0E-06
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 2 2010 2019
dbSNP: rs2274432
rs2274432 		1 184051811 missense variant G/A snv 0.33 0.28
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 2 2008 2019
dbSNP: rs1046934
rs1046934 		1.000 0.080 1 184054395 missense variant A/C;G;T snv 0.34; 4.0E-06
CUI: C4049938
Disease: Physical Activity Measurement
Physical Activity Measurement 		0.700 1.000 1 2017 2017
dbSNP: rs1046934
rs1046934 		1.000 0.080 1 184054395 missense variant A/C;G;T snv 0.34; 4.0E-06
CUI: C0489786
Disease: Height
Height 		0.700 1.000 1 2010 2010
dbSNP: rs10911505
rs10911505 		1 184080844 non coding transcript exon variant T/C snv 0.30
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.700 1.000 1 2018 2018
dbSNP: rs16822427
rs16822427 		0.925 0.040 1 184093663 missense variant A/G snv 2.3E-02
CUI: C0410702
Disease: Adolescent idiopathic scoliosis
Adolescent idiopathic scoliosis 		Musculoskeletal Diseases 0.700 1.000 1 2018 2018
dbSNP: rs16822427
rs16822427 		0.925 0.040 1 184093663 missense variant A/G snv 2.3E-02
CUI: C1837461
Disease: SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 		0.700 1.000 1 2018 2018
dbSNP: rs2274432
rs2274432 		1 184051811 missense variant G/A snv 0.33 0.28
CUI: C4049938
Disease: Physical Activity Measurement
Physical Activity Measurement 		0.700 1.000 1 2017 2017
dbSNP: rs2274432
rs2274432 		1 184051811 missense variant G/A snv 0.33 0.28
CUI: C0037369
Disease: Smoking
Smoking 		Behavior and Behavior Mechanisms 0.700 1.000 1 2017 2017
dbSNP: rs2274432
rs2274432 		1 184051811 missense variant G/A snv 0.33 0.28
CUI: C1519383
Disease: Smoking Behaviors
Smoking Behaviors 		Behavior and Behavior Mechanisms 0.700 1.000 1 2017 2017
dbSNP: rs2274432
rs2274432 		1 184051811 missense variant G/A snv 0.33 0.28
CUI: C0489786
Disease: Height
Height 		0.700 1.000 1 2008 2008
dbSNP: rs971572
rs971572 		1 184099374 intron variant C/A snv 0.30
CUI: C1861172
Disease: Venous Thromboembolism
Venous Thromboembolism 		Cardiovascular Diseases 0.700 1.000 1 2013 2013
dbSNP: rs730882223
rs730882223 		0.851 0.120 1 184054736 missense variant T/G snv
CUI: C0431350
Disease: Primary microcephaly
Primary microcephaly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs730882223
rs730882223 		0.851 0.120 1 184054736 missense variant T/G snv
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs730882223
rs730882223 		0.851 0.120 1 184054736 missense variant T/G snv
CUI: C0014544
Disease: Epilepsy
Epilepsy 		Nervous System Diseases 0.700 0
dbSNP: rs1046934
rs1046934 		1.000 0.080 1 184054395 missense variant A/C;G;T snv 0.34; 4.0E-06
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 1.000 1 2014 2014