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: rs5742612
rs5742612
0.752 0.440 12 102481086 intron variant A/G snv 5.6E-02
CUI: C0410702
Disease: Adolescent idiopathic scoliosis
Adolescent idiopathic scoliosis
0.010 1.000 1 2017 2017
dbSNP: rs972936
rs972936
0.807 0.200 12 102431143 intron variant T/C snv 0.70
CUI: C0494463
Disease: Alzheimer Disease, Late Onset
Alzheimer Disease, Late Onset
0.010 1.000 1 2012 2012
dbSNP: rs748799635
rs748799635
1.000 0.080 12 102475727 missense variant C/T snv 8.0E-06
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.010 1.000 1 2008 2008
dbSNP: rs972936
rs972936
0.807 0.200 12 102431143 intron variant T/C snv 0.70
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.010 1.000 1 2012 2012
dbSNP: rs745805222
rs745805222
0.790 0.120 12 102475722 synonymous variant C/T snv 1.2E-05 4.9E-05
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis
0.100 1.000 11 2007 2018
dbSNP: rs745805222
rs745805222
0.790 0.120 12 102475722 synonymous variant C/T snv 1.2E-05 4.9E-05
Amyotrophic Lateral Sclerosis, Familial
0.010 1.000 1 2007 2007
dbSNP: rs5742612
rs5742612
0.752 0.440 12 102481086 intron variant A/G snv 5.6E-02
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome
0.020 1.000 2 2013 2017
dbSNP: rs6214
rs6214
0.672 0.400 12 102399791 3 prime UTR variant C/T snv 0.45
CUI: C0004763
Disease: Barrett Esophagus
Barrett Esophagus
0.010 1.000 1 2010 2010
dbSNP: rs7136446
rs7136446
0.882 0.160 12 102444737 intron variant C/T snv 0.66
Behavioral and psychological symptoms of dementia
0.010 1.000 1 2019 2019
dbSNP: rs972936
rs972936
0.807 0.200 12 102431143 intron variant T/C snv 0.70
Behavioral and psychological symptoms of dementia
0.010 1.000 1 2019 2019
dbSNP: rs6220
rs6220
0.925 0.080 12 102400737 3 prime UTR variant G/A snv 0.67
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.030 0.667 3 2011 2018
dbSNP: rs7136446
rs7136446
0.882 0.160 12 102444737 intron variant C/T snv 0.66
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.020 0.500 2 2011 2017
dbSNP: rs1239905891
rs1239905891
0.925 0.080 12 102475786 missense variant G/A;T snv
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.010 1.000 1 2008 2008
dbSNP: rs1520220
rs1520220
0.807 0.280 12 102402744 intron variant G/C;T snv 0.76
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.010 < 0.001 1 2018 2018
dbSNP: rs6214
rs6214
0.672 0.400 12 102399791 3 prime UTR variant C/T snv 0.45
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.010 1.000 1 2018 2018
dbSNP: rs745805222
rs745805222
0.790 0.120 12 102475722 synonymous variant C/T snv 1.2E-05 4.9E-05
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma
0.010 1.000 1 2012 2012
dbSNP: rs2072592
rs2072592
0.925 0.120 12 102419854 intron variant C/T snv 2.8E-02
CUI: C0007785
Disease: Cerebral Infarction
Cerebral Infarction
0.010 1.000 1 2012 2012
dbSNP: rs2162679
rs2162679
0.851 0.240 12 102477481 intron variant C/G;T snv
CUI: C0007785
Disease: Cerebral Infarction
Cerebral Infarction
0.010 1.000 1 2012 2012
dbSNP: rs6218
rs6218
0.732 0.440 12 102399855 3 prime UTR variant A/G snv 2.1E-02
CUI: C0007785
Disease: Cerebral Infarction
Cerebral Infarction
0.010 1.000 1 2012 2012
dbSNP: rs7956547
rs7956547
0.925 0.120 12 102465038 intron variant T/C snv 0.25
CUI: C0007785
Disease: Cerebral Infarction
Cerebral Infarction
0.010 1.000 1 2012 2012
dbSNP: rs978458
rs978458
0.925 0.120 12 102408461 intron variant T/C snv 0.69
CUI: C0007785
Disease: Cerebral Infarction
Cerebral Infarction
0.010 1.000 1 2012 2012
dbSNP: rs7136446
rs7136446
0.882 0.160 12 102444737 intron variant C/T snv 0.66
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident
0.010 1.000 1 2013 2013
dbSNP: rs6214
rs6214
0.672 0.400 12 102399791 3 prime UTR variant C/T snv 0.45
Childhood Acute Lymphoblastic Leukemia
0.010 1.000 1 2015 2015
dbSNP: rs6218
rs6218
0.732 0.440 12 102399855 3 prime UTR variant A/G snv 2.1E-02
Childhood Acute Lymphoblastic Leukemia
0.010 1.000 1 2015 2015
dbSNP: rs745805222
rs745805222
0.790 0.120 12 102475722 synonymous variant C/T snv 1.2E-05 4.9E-05
CUI: C4086165
Disease: Childhood Neuroblastoma
Childhood Neuroblastoma
0.010 1.000 1 2012 2012