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: rs755622
rs755622
0.611 0.720 22 23894205 intron variant G/C snv 0.26
CUI: C0003864
Disease: Arthritis
Arthritis
0.030 1.000 3 2012 2020
dbSNP: rs5844572
rs5844572
0.752 0.360 22 23893562 intron variant -/ATTC delins
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
0.020 1.000 2 2017 2019
dbSNP: rs755622
rs755622
0.611 0.720 22 23894205 intron variant G/C snv 0.26
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
0.020 1.000 2 2012 2020
dbSNP: rs755622
rs755622
0.611 0.720 22 23894205 intron variant G/C snv 0.26
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.020 1.000 2 2015 2018
dbSNP: rs755622
rs755622
0.611 0.720 22 23894205 intron variant G/C snv 0.26
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
0.020 1.000 2 2015 2018
dbSNP: rs755622
rs755622
0.611 0.720 22 23894205 intron variant G/C snv 0.26
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis
0.020 1.000 2 2018 2018
dbSNP: rs755622
rs755622
0.611 0.720 22 23894205 intron variant G/C snv 0.26
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
0.020 1.000 2 2017 2019
dbSNP: rs755622
rs755622
0.611 0.720 22 23894205 intron variant G/C snv 0.26
Childhood Acute Lymphoblastic Leukemia
0.020 1.000 2 2010 2018
dbSNP: rs11548059
rs11548059
0.925 0.080 22 23894794 missense variant C/G;T snv 6.1E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.010 < 0.001 1 2017 2017
dbSNP: rs11548059
rs11548059
0.925 0.080 22 23894794 missense variant C/G;T snv 6.1E-06
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.010 < 0.001 1 2017 2017
dbSNP: rs1803976
rs1803976
0.925 0.080 22 23895075 missense variant A/G snv 3.0E-05 4.2E-05
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.010 < 0.001 1 2017 2017
dbSNP: rs1803976
rs1803976
0.925 0.080 22 23895075 missense variant A/G snv 3.0E-05 4.2E-05
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.010 < 0.001 1 2017 2017
dbSNP: rs2096525
rs2096525
0.827 0.280 22 23894632 non coding transcript exon variant T/C snv 0.20 0.20
CUI: C0042170
Disease: Uveomeningoencephalitic Syndrome
Uveomeningoencephalitic Syndrome
0.010 1.000 1 2013 2013
dbSNP: rs2096525
rs2096525
0.827 0.280 22 23894632 non coding transcript exon variant T/C snv 0.20 0.20
CUI: C0018681
Disease: Headache
Headache
0.010 1.000 1 2013 2013
dbSNP: rs2096525
rs2096525
0.827 0.280 22 23894632 non coding transcript exon variant T/C snv 0.20 0.20
CUI: C0042900
Disease: Vitiligo
Vitiligo
0.010 1.000 1 2013 2013
dbSNP: rs2096525
rs2096525
0.827 0.280 22 23894632 non coding transcript exon variant T/C snv 0.20 0.20
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
0.010 1.000 1 2016 2016
dbSNP: rs2096525
rs2096525
0.827 0.280 22 23894632 non coding transcript exon variant T/C snv 0.20 0.20
CUI: C0004943
Disease: Behcet Syndrome
Behcet Syndrome
0.010 1.000 1 2012 2012
dbSNP: rs2096525
rs2096525
0.827 0.280 22 23894632 non coding transcript exon variant T/C snv 0.20 0.20
VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding)
0.010 1.000 1 2013 2013
dbSNP: rs5844572
rs5844572
0.752 0.360 22 23893562 intron variant -/ATTC delins
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
0.010 1.000 1 2020 2020
dbSNP: rs5844572
rs5844572
0.752 0.360 22 23893562 intron variant -/ATTC delins
CUI: C4721555
Disease: Autoimmune hepatitis
Autoimmune hepatitis
0.010 1.000 1 2014 2014
dbSNP: rs5844572
rs5844572
0.752 0.360 22 23893562 intron variant -/ATTC delins
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma
0.010 1.000 1 2019 2019
dbSNP: rs5844572
rs5844572
0.752 0.360 22 23893562 intron variant -/ATTC delins
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis
0.010 1.000 1 2018 2018
dbSNP: rs5844572
rs5844572
0.752 0.360 22 23893562 intron variant -/ATTC delins
Congenital atresia of extrahepatic bile duct
0.010 1.000 1 2017 2017
dbSNP: rs5844572
rs5844572
0.752 0.360 22 23893562 intron variant -/ATTC delins
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic
0.010 1.000 1 2011 2011
dbSNP: rs5844572
rs5844572
0.752 0.360 22 23893562 intron variant -/ATTC delins
CUI: C0241910
Disease: Autoimmune Chronic Hepatitis
Autoimmune Chronic Hepatitis
0.010 1.000 1 2014 2014