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: rs920778
rs920778
HOTAIR
0.633 0.480 12 53966448 intron variant G/A snv 0.57
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.100 0.938 16 2015 2020
dbSNP: rs920778
rs920778
HOTAIR
0.633 0.480 12 53966448 intron variant G/A snv 0.57
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.100 0.938 16 2015 2020
dbSNP: rs4759314
rs4759314
HOTAIR
0.649 0.440 12 53968051 non coding transcript exon variant G/A snv 0.93
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.080 0.500 8 2016 2019
dbSNP: rs4759314
rs4759314
HOTAIR
0.649 0.440 12 53968051 non coding transcript exon variant G/A snv 0.93
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.080 0.500 8 2016 2019
dbSNP: rs1899663
rs1899663
HOTAIR
0.683 0.280 12 53967210 intron variant C/A snv 0.28
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.070 0.571 7 2016 2018
dbSNP: rs1899663
rs1899663
HOTAIR
0.683 0.280 12 53967210 intron variant C/A snv 0.28
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.070 0.571 7 2016 2018
dbSNP: rs7958904
rs7958904
HOTAIR
0.724 0.200 12 53963768 non coding transcript exon variant C/A;G snv
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.060 1.000 6 2017 2018
dbSNP: rs7958904
rs7958904
HOTAIR
0.724 0.200 12 53963768 non coding transcript exon variant C/A;G snv
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.060 1.000 6 2017 2018
dbSNP: rs920778
rs920778
HOTAIR
0.633 0.480 12 53966448 intron variant G/A snv 0.57
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.040 0.750 4 2015 2018
dbSNP: rs920778
rs920778
HOTAIR
0.633 0.480 12 53966448 intron variant G/A snv 0.57
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach 		0.040 1.000 4 2015 2020
dbSNP: rs920778
rs920778
HOTAIR
0.633 0.480 12 53966448 intron variant G/A snv 0.57
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.040 1.000 4 2015 2017
dbSNP: rs920778
rs920778
HOTAIR
0.633 0.480 12 53966448 intron variant G/A snv 0.57
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma 		0.040 1.000 4 2015 2020
dbSNP: rs920778
rs920778
HOTAIR
0.633 0.480 12 53966448 intron variant G/A snv 0.57
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.040 0.750 4 2015 2018
dbSNP: rs1899663
rs1899663
HOTAIR
0.683 0.280 12 53967210 intron variant C/A snv 0.28
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.030 1.000 3 2017 2018
dbSNP: rs1899663
rs1899663
HOTAIR
0.683 0.280 12 53967210 intron variant C/A snv 0.28
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.030 1.000 3 2017 2018
dbSNP: rs4759314
rs4759314
HOTAIR
0.649 0.440 12 53968051 non coding transcript exon variant G/A snv 0.93
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.030 0.667 3 2017 2018
dbSNP: rs4759314
rs4759314
HOTAIR
0.649 0.440 12 53968051 non coding transcript exon variant G/A snv 0.93
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.030 0.667 3 2017 2018
dbSNP: rs920778
rs920778
HOTAIR
0.633 0.480 12 53966448 intron variant G/A snv 0.57
CUI: C0007847
Disease: Malignant tumor of cervix
Malignant tumor of cervix 		0.030 1.000 3 2016 2018
dbSNP: rs920778
rs920778
HOTAIR
0.633 0.480 12 53966448 intron variant G/A snv 0.57
CUI: C0302592
Disease: Cervix carcinoma
Cervix carcinoma 		0.030 1.000 3 2016 2018
dbSNP: rs920778
rs920778
HOTAIR
0.633 0.480 12 53966448 intron variant G/A snv 0.57
CUI: C4048328
Disease: cervical cancer
cervical cancer 		0.030 1.000 3 2016 2018
dbSNP: rs920778
rs920778
HOTAIR
0.633 0.480 12 53966448 intron variant G/A snv 0.57
CUI: C0686619
Disease: Secondary malignant neoplasm of lymph node
Secondary malignant neoplasm of lymph node 		0.030 1.000 3 2017 2019
dbSNP: rs1899663
rs1899663
HOTAIR
0.683 0.280 12 53967210 intron variant C/A snv 0.28
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.020 0.500 2 2018 2018
dbSNP: rs1899663
rs1899663
HOTAIR
0.683 0.280 12 53967210 intron variant C/A snv 0.28
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		0.020 0.500 2 2018 2018
dbSNP: rs1899663
rs1899663
HOTAIR
0.683 0.280 12 53967210 intron variant C/A snv 0.28
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		0.020 0.500 2 2018 2018
dbSNP: rs4759314
rs4759314
HOTAIR
0.649 0.440 12 53968051 non coding transcript exon variant G/A snv 0.93
CUI: C4721610
Disease: Carcinoma, Ovarian Epithelial
Carcinoma, Ovarian Epithelial 		0.020 1.000 2 2016 2018