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: rs350889
rs350889 		19 4118483 intron variant A/G snv 0.78
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2018 2018
dbSNP: rs350912
rs350912 		19 4098778 intron variant A/G snv 0.77
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs6630
rs6630 		19 4090424 3 prime UTR variant G/A;C;T snv
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure 		0.700 1.000 1 2019 2019
dbSNP: rs1057519806
rs1057519806 		0.882 0.200 19 4110583 missense variant T/C snv
CUI: C3809007
Disease: CARDIOFACIOCUTANEOUS SYNDROME 4
CARDIOFACIOCUTANEOUS SYNDROME 4 		0.700 0
dbSNP: rs1135401787
rs1135401787 		1.000 19 4117531 missense variant A/C;G snv 4.0E-06
CUI: C3809007
Disease: CARDIOFACIOCUTANEOUS SYNDROME 4
CARDIOFACIOCUTANEOUS SYNDROME 4 		0.700 0
dbSNP: rs387906800
rs387906800 		1.000 19 4110564 missense variant C/T snv
CUI: C3809007
Disease: CARDIOFACIOCUTANEOUS SYNDROME 4
CARDIOFACIOCUTANEOUS SYNDROME 4 		0.700 0
dbSNP: rs727504382
rs727504382 		0.925 0.200 19 4101105 missense variant C/T snv
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs727504382
rs727504382 		0.925 0.200 19 4101105 missense variant C/T snv
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs730880517
rs730880517 		1.000 0.160 19 4117541 missense variant T/C snv
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs1057519808
rs1057519808 		1.000 0.040 19 4117543 missense variant T/G snv
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.020 1.000 2 2013 2014