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: rs619586
rs619586
MALAT1
0.724 0.360 11 65498698 non coding transcript exon variant A/G snv 5.9E-02 3.3E-02
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.050 0.800 5 2012 2019
dbSNP: rs3200401
rs3200401
MALAT1 ; MASCRNA ; TALAM1
0.742 0.320 11 65504361 splice region variant C/T snv 0.17 0.17
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		0.010 1.000 1 2017 2017
dbSNP: rs3200401
rs3200401
MALAT1 ; MASCRNA ; TALAM1
0.742 0.320 11 65504361 splice region variant C/T snv 0.17 0.17
CUI: C0279626
Disease: Squamous cell carcinoma of esophagus
Squamous cell carcinoma of esophagus 		0.010 1.000 1 2019 2019
dbSNP: rs3200401
rs3200401
MALAT1 ; MASCRNA ; TALAM1
0.742 0.320 11 65504361 splice region variant C/T snv 0.17 0.17
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.010 1.000 1 2018 2018
dbSNP: rs3200401
rs3200401
MALAT1 ; MASCRNA ; TALAM1
0.742 0.320 11 65504361 splice region variant C/T snv 0.17 0.17
CUI: C0019163
Disease: Hepatitis B
Hepatitis B 		0.010 1.000 1 2019 2019
dbSNP: rs3200401
rs3200401
MALAT1 ; MASCRNA ; TALAM1
0.742 0.320 11 65504361 splice region variant C/T snv 0.17 0.17
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		0.010 1.000 1 2019 2019
dbSNP: rs3200401
rs3200401
MALAT1 ; MASCRNA ; TALAM1
0.742 0.320 11 65504361 splice region variant C/T snv 0.17 0.17
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.010 < 0.001 1 2019 2019
dbSNP: rs3200401
rs3200401
MALAT1 ; MASCRNA ; TALAM1
0.742 0.320 11 65504361 splice region variant C/T snv 0.17 0.17
CUI: C0345964
Disease: Adenoma of lung
Adenoma of lung 		0.010 1.000 1 2017 2017
dbSNP: rs3200401
rs3200401
MALAT1 ; MASCRNA ; TALAM1
0.742 0.320 11 65504361 splice region variant C/T snv 0.17 0.17
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 1.000 1 2018 2018
dbSNP: rs3200401
rs3200401
MALAT1 ; MASCRNA ; TALAM1
0.742 0.320 11 65504361 splice region variant C/T snv 0.17 0.17
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke 		0.010 < 0.001 1 2018 2018
dbSNP: rs3200401
rs3200401
MALAT1 ; MASCRNA ; TALAM1
0.742 0.320 11 65504361 splice region variant C/T snv 0.17 0.17
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		0.010 1.000 1 2020 2020
dbSNP: rs3200401
rs3200401
MALAT1 ; MASCRNA ; TALAM1
0.742 0.320 11 65504361 splice region variant C/T snv 0.17 0.17
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		0.010 1.000 1 2019 2019
dbSNP: rs4102217
rs4102217
MALAT1
0.925 0.120 11 65496424 upstream gene variant G/C snv 0.15
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		0.010 1.000 1 2019 2019
dbSNP: rs4102217
rs4102217
MALAT1
0.925 0.120 11 65496424 upstream gene variant G/C snv 0.15
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.010 1.000 1 2018 2018
dbSNP: rs591291
rs591291
MALAT1
1.000 0.040 11 65497011 upstream gene variant C/T snv 0.43
CUI: C0014175
Disease: Endometriosis
Endometriosis 		0.010 1.000 1 2019 2019
dbSNP: rs619586
rs619586
MALAT1
0.724 0.360 11 65498698 non coding transcript exon variant A/G snv 5.9E-02 3.3E-02
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.010 1.000 1 2018 2018
dbSNP: rs619586
rs619586
MALAT1
0.724 0.360 11 65498698 non coding transcript exon variant A/G snv 5.9E-02 3.3E-02
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 1.000 1 2018 2018
dbSNP: rs619586
rs619586
MALAT1
0.724 0.360 11 65498698 non coding transcript exon variant A/G snv 5.9E-02 3.3E-02
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.010 1.000 1 2018 2018
dbSNP: rs619586
rs619586
MALAT1
0.724 0.360 11 65498698 non coding transcript exon variant A/G snv 5.9E-02 3.3E-02
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.010 1.000 1 2018 2018
dbSNP: rs619586
rs619586
MALAT1
0.724 0.360 11 65498698 non coding transcript exon variant A/G snv 5.9E-02 3.3E-02
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		0.010 1.000 1 2019 2019
dbSNP: rs619586
rs619586
MALAT1
0.724 0.360 11 65498698 non coding transcript exon variant A/G snv 5.9E-02 3.3E-02
CUI: C0279626
Disease: Squamous cell carcinoma of esophagus
Squamous cell carcinoma of esophagus 		0.010 1.000 1 2019 2019
dbSNP: rs619586
rs619586
MALAT1
0.724 0.360 11 65498698 non coding transcript exon variant A/G snv 5.9E-02 3.3E-02
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		0.010 1.000 1 2019 2019
dbSNP: rs619586
rs619586
MALAT1
0.724 0.360 11 65498698 non coding transcript exon variant A/G snv 5.9E-02 3.3E-02
CUI: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma 		0.010 1.000 1 2019 2019
dbSNP: rs619586
rs619586
MALAT1
0.724 0.360 11 65498698 non coding transcript exon variant A/G snv 5.9E-02 3.3E-02
CUI: C1337013
Disease: Differentiated Thyroid Gland Carcinoma
Differentiated Thyroid Gland Carcinoma 		0.010 1.000 1 2020 2020
dbSNP: rs619586
rs619586
MALAT1
0.724 0.360 11 65498698 non coding transcript exon variant A/G snv 5.9E-02 3.3E-02
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		0.010 1.000 1 2019 2019