Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs11170829
rs11170829
0.925 0.040 12 54148144 intron variant G/A snv 4.5E-03
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
0.700 1.000 1 2018 2018
dbSNP: rs11170829
rs11170829
0.925 0.040 12 54148144 intron variant G/A snv 4.5E-03
CUI: C0410702
Disease: Adolescent idiopathic scoliosis
Adolescent idiopathic scoliosis
Musculoskeletal Diseases 0.700 1.000 1 2018 2018
dbSNP: rs2370823
rs2370823
12 54138553 intron variant G/A snv 0.88
RDW - Red blood cell distribution width result
0.700 1.000 1 2019 2019
dbSNP: rs2370823
rs2370823
12 54138553 intron variant G/A snv 0.88
Red cell distribution width determination
0.700 1.000 1 2019 2019
dbSNP: rs3087404
rs3087404
0.925 0.080 12 54187830 5 prime UTR variant T/C snv 0.47
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
Eye Diseases 0.030 1.000 3 2012 2017
dbSNP: rs1043202
rs1043202
0.882 0.080 12 54182178 missense variant T/A snv
CUI: C0497327
Disease: Dementia
Dementia
Nervous System Diseases; Mental Disorders 0.010 1.000 1 2008 2008
dbSNP: rs1043202
rs1043202
0.882 0.080 12 54182178 missense variant T/A snv
CUI: C0011265
Disease: Presenile dementia
Presenile dementia
Nervous System Diseases; Mental Disorders 0.010 1.000 1 2008 2008
dbSNP: rs1043202
rs1043202
0.882 0.080 12 54182178 missense variant T/A snv
CUI: C0750901
Disease: Alzheimer Disease, Early Onset
Alzheimer Disease, Early Onset
Nervous System Diseases; Mental Disorders 0.010 1.000 1 2008 2008
dbSNP: rs1450457536
rs1450457536
1.000 0.040 12 54183775 missense variant T/C snv 7.0E-06
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
Eye Diseases 0.010 1.000 1 2012 2012
dbSNP: rs3087404
rs3087404
0.925 0.080 12 54187830 5 prime UTR variant T/C snv 0.47
CUI: C0851140
Disease: Carcinoma in situ of uterine cervix
Carcinoma in situ of uterine cervix
Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs3087404
rs3087404
0.925 0.080 12 54187830 5 prime UTR variant T/C snv 0.47
CUI: C0027651
Disease: Neoplasms
Neoplasms
Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs771744744
rs771744744
0.925 0.120 12 54182241 missense variant C/T snv 8.0E-06
CUI: C0013362
Disease: Dysarthria
Dysarthria
Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2010 2010
dbSNP: rs771744744
rs771744744
0.925 0.120 12 54182241 missense variant C/T snv 8.0E-06
CUI: C0037771
Disease: Paraparesis, Spastic
Paraparesis, Spastic
Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2010 2010
dbSNP: rs771744744
rs771744744
0.925 0.120 12 54182241 missense variant C/T snv 8.0E-06
CUI: C0750901
Disease: Alzheimer Disease, Early Onset
Alzheimer Disease, Early Onset
Nervous System Diseases; Mental Disorders 0.010 1.000 1 2010 2010