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: rs1057519789
rs1057519789 		1.000 0.080 1 162775707 missense variant A/G;T snv 4.0E-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: rs1057519790
rs1057519790 		1.000 0.080 1 162778617 missense variant G/T snv
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: rs10917587
rs10917587 		1 162691673 intron variant A/G snv 8.6E-02
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure 		0.700 1.000 1 2011 2011
dbSNP: rs115169993
rs115169993 		1.000 0.040 1 162772032 missense variant G/A snv 7.8E-04 2.9E-03
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma 		Neoplasms 0.010 1.000 1 2013 2013
dbSNP: rs121964863
rs121964863 		1.000 0.120 1 162776341 missense variant C/T 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: rs121964864
rs121964864 		1.000 0.120 1 162776264 missense variant T/G 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 0.800 1.000 3 2009 2016
dbSNP: rs121964865
rs121964865 		1.000 0.120 1 162776225 missense variant C/A;T snv 4.0E-06
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: rs144594252
rs144594252 		0.882 0.080 1 162754625 missense variant C/G snv 6.8E-05 5.6E-05
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma 		Neoplasms 0.010 1.000 1 2013 2013
dbSNP: rs144594252
rs144594252 		0.882 0.080 1 162754625 missense variant C/G snv 6.8E-05 5.6E-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: rs144594252
rs144594252 		0.882 0.080 1 162754625 missense variant C/G snv 6.8E-05 5.6E-05
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		Neoplasms 0.010 1.000 1 2015 2015
dbSNP: rs1558079436
rs1558079436 		0.925 0.040 1 162773569 missense variant T/C snv
CUI: C3149494
Disease: KELOID FORMATION
KELOID FORMATION 		0.700 0
dbSNP: rs1558079436
rs1558079436 		0.925 0.040 1 162773569 missense variant T/C snv
CUI: C0158113
Disease: Contracture of joint of hand
Contracture of joint of hand 		Musculoskeletal Diseases 0.700 0
dbSNP: rs1558079436
rs1558079436 		0.925 0.040 1 162773569 missense variant T/C snv
CUI: C4024579
Disease: Osteolysis involving bones of the feet
Osteolysis involving bones of the feet 		Musculoskeletal Diseases 0.700 0
dbSNP: rs1558081627
rs1558081627 		1.000 0.040 1 162776306 missense variant A/G snv
CUI: C0158113
Disease: Contracture of joint of hand
Contracture of joint of hand 		Musculoskeletal Diseases 0.700 0
dbSNP: rs1558081627
rs1558081627 		1.000 0.040 1 162776306 missense variant A/G snv
CUI: C3149494
Disease: KELOID FORMATION
KELOID FORMATION 		0.700 0
dbSNP: rs17433710
rs17433710 		1.000 0.120 1 162702221 intron variant T/C snv 0.12
CUI: C0013312
Disease: Dupuytren Contracture
Dupuytren Contracture 		Neoplasms; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 1.000 1 2017 2017
dbSNP: rs1780007
rs1780007 		1 162778235 intron variant A/C snv 0.62
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure 		0.700 1.000 1 2011 2011
dbSNP: rs201701502
rs201701502 		0.851 0.080 1 162775837 missense variant C/G;T snv 1.5E-04 2.1E-05
CUI: C0149782
Disease: Squamous cell carcinoma of lung
Squamous cell carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2017 2017
dbSNP: rs201701502
rs201701502 		0.851 0.080 1 162775837 missense variant C/G;T snv 1.5E-04 2.1E-05
CUI: C0751688
Disease: Malignant Squamous Cell Neoplasm
Malignant Squamous Cell Neoplasm 		Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs201701502
rs201701502 		0.851 0.080 1 162775837 missense variant C/G;T snv 1.5E-04 2.1E-05
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma 		Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs201701502
rs201701502 		0.851 0.080 1 162775837 missense variant C/G;T snv 1.5E-04 2.1E-05
CUI: C0153676
Disease: Secondary malignant neoplasm of lung
Secondary malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2017 2017
dbSNP: rs201701502
rs201701502 		0.851 0.080 1 162775837 missense variant C/G;T snv 1.5E-04 2.1E-05
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		0.010 1.000 1 2017 2017
dbSNP: rs267598140
rs267598140 		0.925 0.080 1 162778600 missense variant T/A;G snv
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma 		Neoplasms 0.700 1.000 3 2008 2013
dbSNP: rs267598140
rs267598140 		0.925 0.080 1 162778600 missense variant T/A;G snv
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2014 2014
dbSNP: rs267598140
rs267598140 		0.925 0.080 1 162778600 missense variant T/A;G snv
CUI: C0686377
Disease: CNS metastases
CNS metastases 		Neoplasms; Nervous System Diseases 0.010 1.000 1 2014 2014