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: rs2066827
rs2066827
CDKN1B ; GPR19
0.695 0.320 12 12718165 missense variant T/A;C;G snv 1.6E-04; 1.6E-05; 0.26
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		0.730 0.750 3 2004 2019
dbSNP: rs1800795
rs1800795
IL6 ; STEAP1B ; IL6-AS1
0.494 0.840 7 22727026 intron variant C/G snv 0.71
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.720 1.000 2 2012 2016
dbSNP: rs370588279
rs370588279
SLC26A4 ; SLC26A4-AS1
0.925 0.160 7 107663400 stop gained C/A;T snv 4.0E-06; 2.0E-05
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		0.710 1.000 1 2003 2010
dbSNP: rs1800795
rs1800795
IL6 ; STEAP1B ; IL6-AS1
0.494 0.840 7 22727026 intron variant C/G snv 0.71
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		0.070 0.714 7 2009 2019
dbSNP: rs1800795
rs1800795
IL6 ; STEAP1B ; IL6-AS1
0.494 0.840 7 22727026 intron variant C/G snv 0.71
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.070 1.000 7 2006 2018
dbSNP: rs1800795
rs1800795
IL6 ; STEAP1B ; IL6-AS1
0.494 0.840 7 22727026 intron variant C/G snv 0.71
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		0.070 0.714 7 2009 2019
dbSNP: rs669
rs669
A2M ; KLRG1
0.851 0.080 12 9079672 missense variant T/C snv 0.31 0.33
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.070 0.714 7 1999 2014
dbSNP: rs1800795
rs1800795
IL6 ; STEAP1B ; IL6-AS1
0.494 0.840 7 22727026 intron variant C/G snv 0.71
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.060 1.000 6 2007 2017
dbSNP: rs1800795
rs1800795
IL6 ; STEAP1B ; IL6-AS1
0.494 0.840 7 22727026 intron variant C/G snv 0.71
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.060 1.000 6 2007 2017
dbSNP: rs1800795
rs1800795
IL6 ; STEAP1B ; IL6-AS1
0.494 0.840 7 22727026 intron variant C/G snv 0.71
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke 		0.060 0.833 6 2010 2019
dbSNP: rs1800795
rs1800795
IL6 ; STEAP1B ; IL6-AS1
0.494 0.840 7 22727026 intron variant C/G snv 0.71
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.050 1.000 5 2009 2017
dbSNP: rs1800795
rs1800795
IL6 ; STEAP1B ; IL6-AS1
0.494 0.840 7 22727026 intron variant C/G snv 0.71
CUI: C4048328
Disease: cervical cancer
cervical cancer 		0.040 1.000 4 2017 2018
dbSNP: rs1800795
rs1800795
IL6 ; STEAP1B ; IL6-AS1
0.494 0.840 7 22727026 intron variant C/G snv 0.71
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.040 0.750 4 2007 2018
dbSNP: rs1800795
rs1800795
IL6 ; STEAP1B ; IL6-AS1
0.494 0.840 7 22727026 intron variant C/G snv 0.71
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.040 0.750 4 2007 2018
dbSNP: rs1800795
rs1800795
IL6 ; STEAP1B ; IL6-AS1
0.494 0.840 7 22727026 intron variant C/G snv 0.71
CUI: C0007847
Disease: Malignant tumor of cervix
Malignant tumor of cervix 		0.040 1.000 4 2017 2018
dbSNP: rs1800795
rs1800795
IL6 ; STEAP1B ; IL6-AS1
0.494 0.840 7 22727026 intron variant C/G snv 0.71
CUI: C0041296
Disease: Tuberculosis
Tuberculosis 		0.040 1.000 4 2018 2020
dbSNP: rs1800795
rs1800795
IL6 ; STEAP1B ; IL6-AS1
0.494 0.840 7 22727026 intron variant C/G snv 0.71
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		0.040 1.000 4 2014 2019
dbSNP: rs1800795
rs1800795
IL6 ; STEAP1B ; IL6-AS1
0.494 0.840 7 22727026 intron variant C/G snv 0.71
CUI: C0302592
Disease: Cervix carcinoma
Cervix carcinoma 		0.040 1.000 4 2017 2018
dbSNP: rs1800796
rs1800796
IL6 ; STEAP1B ; IL6-AS1
0.555 0.760 7 22726627 non coding transcript exon variant G/C snv 9.9E-02
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma 		0.040 1.000 4 2012 2019
dbSNP: rs1800796
rs1800796
IL6 ; STEAP1B ; IL6-AS1
0.555 0.760 7 22726627 non coding transcript exon variant G/C snv 9.9E-02
CUI: C0029456
Disease: Osteoporosis
Osteoporosis 		0.040 1.000 4 2010 2019
dbSNP: rs1800796
rs1800796
IL6 ; STEAP1B ; IL6-AS1
0.555 0.760 7 22726627 non coding transcript exon variant G/C snv 9.9E-02
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach 		0.040 1.000 4 2012 2019
dbSNP: rs1800796
rs1800796
IL6 ; STEAP1B ; IL6-AS1
0.555 0.760 7 22726627 non coding transcript exon variant G/C snv 9.9E-02
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.040 1.000 4 2006 2017
dbSNP: rs1800796
rs1800796
IL6 ; STEAP1B ; IL6-AS1
0.555 0.760 7 22726627 non coding transcript exon variant G/C snv 9.9E-02
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke 		0.040 1.000 4 2011 2017
dbSNP: rs1800795
rs1800795
IL6 ; STEAP1B ; IL6-AS1
0.494 0.840 7 22727026 intron variant C/G snv 0.71
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma 		0.030 1.000 3 2009 2018
dbSNP: rs1800795
rs1800795
IL6 ; STEAP1B ; IL6-AS1
0.494 0.840 7 22727026 intron variant C/G snv 0.71
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis 		0.030 1.000 3 2008 2014