Source: ALL

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: rs157935
rs157935
LINC-PINT ; LINC00513
0.851 0.040 7 130900794 intron variant T/G snv 0.28
CUI: C0206710
Disease: Basal Cell Neoplasm
Basal Cell Neoplasm 		0.700 1.000 2 2014 2015
dbSNP: rs157935
rs157935
LINC-PINT ; LINC00513
0.851 0.040 7 130900794 intron variant T/G snv 0.28
CUI: C0007117
Disease: Basal cell carcinoma
Basal cell carcinoma 		0.700 1.000 2 2014 2015
dbSNP: rs157935
rs157935
LINC-PINT ; LINC00513
0.851 0.040 7 130900794 intron variant T/G snv 0.28
CUI: C0751676
Disease: Basal Cell Cancer
Basal Cell Cancer 		0.700 1.000 2 2014 2015
dbSNP: rs4593472
rs4593472
LINC-PINT
0.882 0.080 7 130982362 intron variant C/T snv 0.31
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.700 1.000 2 2015 2017
dbSNP: rs6971499
rs6971499
LINC-PINT
1.000 0.120 7 130995762 intron variant T/C snv 0.15
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma 		0.700 1.000 2 2014 2018
dbSNP: rs10954300
rs10954300
LINC-PINT
7 131076476 intron variant G/A snv 0.50
CUI: C0018498
Disease: Hair Color
Hair Color 		0.700 1.000 1 2018 2018
dbSNP: rs125124
rs125124
LINC-PINT ; LINC00513
0.882 0.040 7 130899925 intron variant C/G snv 0.28
CUI: C0751676
Disease: Basal Cell Cancer
Basal Cell Cancer 		0.700 1.000 1 2019 2019
dbSNP: rs125124
rs125124
LINC-PINT ; LINC00513
0.882 0.040 7 130899925 intron variant C/G snv 0.28
CUI: C0007117
Disease: Basal cell carcinoma
Basal cell carcinoma 		0.700 1.000 1 2019 2019
dbSNP: rs125124
rs125124
LINC-PINT ; LINC00513
0.882 0.040 7 130899925 intron variant C/G snv 0.28
CUI: C0206710
Disease: Basal Cell Neoplasm
Basal Cell Neoplasm 		0.700 1.000 1 2019 2019
dbSNP: rs157935
rs157935
LINC-PINT ; LINC00513
0.851 0.040 7 130900794 intron variant T/G snv 0.28
CUI: C4721806
Disease: Carcinoma, Basal Cell
Carcinoma, Basal Cell 		0.700 1.000 1 2014 2014
dbSNP: rs17165295
rs17165295
LINC-PINT
7 130937805 non coding transcript exon variant A/G snv 0.16
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs35908158
rs35908158
LINC-PINT
7 130935964 intron variant T/C snv 9.1E-02
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure 		0.700 1.000 1 2019 2019
dbSNP: rs4731742
rs4731742
LINC-PINT
0.882 0.080 7 131070053 intron variant G/A;C snv
CUI: C0153535
Disease: Malignant melanoma of skin of upper limb
Malignant melanoma of skin of upper limb 		0.700 1.000 1 2015 2015
dbSNP: rs4731742
rs4731742
LINC-PINT
0.882 0.080 7 131070053 intron variant G/A;C snv
CUI: C0153536
Disease: Malignant melanoma of skin of lower limb
Malignant melanoma of skin of lower limb 		0.700 1.000 1 2015 2015
dbSNP: rs4731742
rs4731742
LINC-PINT
0.882 0.080 7 131070053 intron variant G/A;C snv
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		0.700 1.000 1 2015 2015
dbSNP: rs58270997
rs58270997
LINC-PINT
7 131044635 intron variant C/T snv 0.37
CUI: C0018498
Disease: Hair Color
Hair Color 		0.700 1.000 1 2018 2018
dbSNP: rs66871626
rs66871626
LINC-PINT
7 131075559 intron variant G/T snv 0.28
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		0.700 1.000 1 2019 2019
dbSNP: rs68056147
rs68056147
LINC-PINT
1.000 0.080 7 130989722 intron variant G/A snv 0.23
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.700 1.000 1 2017 2017
dbSNP: rs6957511
rs6957511
LINC-PINT
1.000 0.080 7 130983859 intron variant C/G;T snv
CUI: C0149782
Disease: Squamous cell carcinoma of lung
Squamous cell carcinoma of lung 		0.700 1.000 1 2017 2017
dbSNP: rs7803075
rs7803075
LINC-PINT
7 131057307 intron variant A/G snv 0.50
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.700 1.000 1 2019 2019
dbSNP: rs7803075
rs7803075
LINC-PINT
7 131057307 intron variant A/G snv 0.50
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure 		0.700 1.000 1 2019 2019
dbSNP: rs9649546
rs9649546
LINC-PINT ; LINC00513
7 130891687 intron variant T/C snv 8.4E-02
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure 		0.700 1.000 1 2019 2019
dbSNP: rs9649546
rs9649546
LINC-PINT ; LINC00513
7 130891687 intron variant T/C snv 8.4E-02
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		0.700 1.000 1 2019 2019
dbSNP: rs157928
rs157928
LINC-PINT ; LINC00513
1.000 0.040 7 130896599 intron variant T/C snv 0.29
CUI: C0340100
Disease: High altitude pulmonary edema
High altitude pulmonary edema 		0.010 1.000 1 2019 2019
dbSNP: rs2048672
rs2048672
LINC-PINT
0.925 0.080 7 130969092 intron variant C/A snv 0.45
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.010 1.000 1 2014 2014