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: rs2684866
rs2684866 		1 162756491 intron variant A/C snv 0.61
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure 		0.700 1.000 1 2011 2011
dbSNP: rs2805025
rs2805025 		1 162762701 intron variant G/A snv 0.61
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure 		0.700 1.000 1 2011 2011
dbSNP: rs2806424
rs2806424 		1 162721669 intron variant G/A snv 0.58
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure 		0.700 1.000 1 2019 2019
dbSNP: rs376303676
rs376303676 		1.000 0.080 1 162759881 missense variant G/A;T snv 8.0E-06
CUI: C0149782
Disease: Squamous cell carcinoma of lung
Squamous cell carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.700 1.000 1 2011 2011
dbSNP: rs397514747
rs397514747 		1.000 0.120 1 162754775 missense variant G/A snv
CUI: C1849011
Disease: SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE
SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases 0.810 1.000 3 2009 2016
dbSNP: rs578015216
rs578015216 		1.000 0.080 1 162759840 missense variant T/C;G snv 2.8E-05
CUI: C0149782
Disease: Squamous cell carcinoma of lung
Squamous cell carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.700 1.000 1 2011 2011
dbSNP: rs6697469
rs6697469 		1 162688983 intron variant C/G snv 0.16
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs6702820
rs6702820 		1 162634091 intron variant A/G snv 0.18
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs7512080
rs7512080 		1.000 0.080 1 162639948 intron variant A/G snv 4.6E-02
CUI: C0346388
Disease: Malignant melanoma of choroid
Malignant melanoma of choroid 		Neoplasms; Eye Diseases 0.700 1.000 1 2020 2020
dbSNP: rs765660823
rs765660823 		0.882 0.200 1 162778720 missense variant A/C snv 1.9E-04
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma 		Neoplasms 0.010 1.000 1 2018 2018
dbSNP: rs765660823
rs765660823 		0.882 0.200 1 162778720 missense variant A/C snv 1.9E-04
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma 		Neoplasms 0.010 1.000 1 2018 2018
dbSNP: rs765660823
rs765660823 		0.882 0.200 1 162778720 missense variant A/C snv 1.9E-04
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2018 2018
dbSNP: rs765660823
rs765660823 		0.882 0.200 1 162778720 missense variant A/C snv 1.9E-04
CUI: C3281200
Disease: LEUKOENCEPHALOPATHY, BRAIN CALCIFICATIONS, AND CYSTS
LEUKOENCEPHALOPATHY, BRAIN CALCIFICATIONS, AND CYSTS 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 2018 2018