Source: BEFREE

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs121964863
rs121964863
DDR2
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 		0.810 1.000 1 2009 2016
dbSNP: rs121964865
rs121964865
DDR2
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 		0.810 1.000 1 2009 2016
dbSNP: rs397514747
rs397514747
DDR2
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 		0.810 1.000 1 2009 2016
dbSNP: rs115169993
rs115169993
DDR2
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 		0.010 1.000 1 2013 2013
dbSNP: rs144594252
rs144594252
DDR2
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) 		0.010 1.000 1 2015 2015
dbSNP: rs144594252
rs144594252
DDR2
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 		0.010 1.000 1 2013 2013
dbSNP: rs201701502
rs201701502
DDR2
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: rs201701502
rs201701502
DDR2
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 		0.010 1.000 1 2014 2014
dbSNP: rs201701502
rs201701502
DDR2
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 		0.010 1.000 1 2017 2017
dbSNP: rs201701502
rs201701502
DDR2
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 		0.010 1.000 1 2014 2014
dbSNP: rs201701502
rs201701502
DDR2
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 		0.010 1.000 1 2017 2017
dbSNP: rs267598140
rs267598140
DDR2
0.925 0.080 1 162778600 missense variant T/A;G snv
CUI: C0686377
Disease: CNS metastases
CNS metastases 		0.010 1.000 1 2014 2014
dbSNP: rs267598140
rs267598140
DDR2
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 		0.010 1.000 1 2014 2014
dbSNP: rs765660823
rs765660823
DDR2
0.882 0.200 1 162778720 missense variant A/C snv 1.9E-04
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma 		0.010 1.000 1 2018 2018
dbSNP: rs765660823
rs765660823
DDR2
0.882 0.200 1 162778720 missense variant A/C snv 1.9E-04
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma 		0.010 1.000 1 2018 2018
dbSNP: rs765660823
rs765660823
DDR2
0.882 0.200 1 162778720 missense variant A/C snv 1.9E-04
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.010 1.000 1 2018 2018
dbSNP: rs765660823
rs765660823
DDR2
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 		0.010 1.000 1 2018 2018