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: rs7134599
rs7134599
1.000 0.040 12 68106295 intron variant G/A snv 0.32
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases
0.810 1.000 2 2012 2020
dbSNP: rs1558744
rs1558744
0.925 0.120 12 68110812 intron variant G/A snv 0.41
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis
0.800 1.000 2 2009 2010
dbSNP: rs2870946
rs2870946
1.000 0.040 12 68202881 intron variant T/C snv 7.0E-02
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis
0.800 1.000 1 2009 2009
dbSNP: rs7134599
rs7134599
1.000 0.040 12 68106295 intron variant G/A snv 0.32
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis
0.800 1.000 1 2011 2011
dbSNP: rs11614178
rs11614178
0.827 0.120 12 68114342 intron variant G/A;T snv 0.26
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis
0.700 1.000 2 2016 2017
dbSNP: rs11177053
rs11177053
1.000 0.040 12 68105457 intron variant T/C snv 0.41
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism
0.700 1.000 1 2019 2019
dbSNP: rs11614178
rs11614178
0.827 0.120 12 68114342 intron variant G/A;T snv 0.26
CUI: C0033860
Disease: Psoriasis
Psoriasis
0.700 1.000 1 2016 2016
dbSNP: rs11614178
rs11614178
0.827 0.120 12 68114342 intron variant G/A;T snv 0.26
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases
0.700 1.000 1 2017 2017
dbSNP: rs11614178
rs11614178
0.827 0.120 12 68114342 intron variant G/A;T snv 0.26
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.700 1.000 1 2016 2016
dbSNP: rs11614178
rs11614178
0.827 0.120 12 68114342 intron variant G/A;T snv 0.26
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis
0.700 1.000 1 2016 2016
dbSNP: rs11614178
rs11614178
0.827 0.120 12 68114342 intron variant G/A;T snv 0.26
CUI: C0008313
Disease: Cholangitis, Sclerosing
Cholangitis, Sclerosing
0.700 1.000 1 2016 2016
dbSNP: rs12318183
rs12318183
12 68110056 intron variant C/A snv 0.34
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases
0.700 1.000 1 2015 2015
dbSNP: rs1548654
rs1548654
0.925 0.040 12 68050417 intron variant A/G snv 3.1E-02
CUI: C0410702
Disease: Adolescent idiopathic scoliosis
Adolescent idiopathic scoliosis
0.700 1.000 1 2018 2018
dbSNP: rs1548654
rs1548654
0.925 0.040 12 68050417 intron variant A/G snv 3.1E-02
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
0.700 1.000 1 2018 2018
dbSNP: rs1558744
rs1558744
0.925 0.120 12 68110812 intron variant G/A snv 0.41
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis
0.700 1.000 1 2011 2011
dbSNP: rs2041862
rs2041862
1.000 0.080 12 68067917 intron variant G/A snv 0.19
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic
0.700 1.000 1 2017 2017
dbSNP: rs2216164
rs2216164
1.000 0.040 12 68140560 intron variant A/G snv 0.49
CUI: C0002171
Disease: Alopecia Areata
Alopecia Areata
0.700 1.000 1 2015 2015
dbSNP: rs7134472
rs7134472
1.000 0.040 12 68106206 intron variant G/A snv 0.32
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis
0.700 1.000 1 2015 2015
dbSNP: rs34079299
rs34079299
0.925 0.200 12 68158715 intron variant TGTGTGTGTGTG/-;TG;TGTG;TGTGTG;TGTGTGTG;TGTGTGTGTG;TGTGTGTGTGTGTG;TGTGTGTGTGTGTGTG;TGTGTGTGTGTGTGTGTG;TGTGTGTGTGTGTGTGTGTG;TGTGTGTGTGTGTGTGTGTGTG;TGTGTGTGTGTGTGTGTGTGTGTG;TGTGTGTGTGTGTGTGTGTGTGTGTG delins
APLASTIC ANEMIA, SUSCEPTIBILITY TO (finding)
0.700 0
dbSNP: rs34079299
rs34079299
0.925 0.200 12 68158715 intron variant TGTGTGTGTGTG/-;TG;TGTG;TGTGTG;TGTGTGTG;TGTGTGTGTG;TGTGTGTGTGTGTG;TGTGTGTGTGTGTGTG;TGTGTGTGTGTGTGTGTG;TGTGTGTGTGTGTGTGTGTG;TGTGTGTGTGTGTGTGTGTGTG;TGTGTGTGTGTGTGTGTGTGTGTG;TGTGTGTGTGTGTGTGTGTGTGTGTG delins
Tsc2 Angiomyolipomas, Renal, Modifier Of
0.700 0
dbSNP: rs2430561
rs2430561
0.590 0.760 12 68158742 intron variant T/A snv 0.36
CUI: C0041296
Disease: Tuberculosis
Tuberculosis
0.060 1.000 6 2010 2017
dbSNP: rs1861494
rs1861494
0.716 0.400 12 68157629 intron variant C/T snv 0.75
CUI: C0041296
Disease: Tuberculosis
Tuberculosis
0.030 1.000 3 2015 2019
dbSNP: rs2069705
rs2069705
0.695 0.440 12 68161231 intron variant G/A;C snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.020 0.500 2 2012 2012
dbSNP: rs2069705
rs2069705
0.695 0.440 12 68161231 intron variant G/A;C snv
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.020 0.500 2 2012 2012
dbSNP: rs2069705
rs2069705
0.695 0.440 12 68161231 intron variant G/A;C snv
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic
0.020 1.000 2 2010 2016