Source: ALL
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: rs3779273
rs3779273 		7 78199623 intron variant G/A snv 0.40
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 3 2015 2018
dbSNP: rs1852006
rs1852006 		7 78200451 intron variant G/A snv 0.37
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 2 2019 2019
dbSNP: rs1030015
rs1030015 		7 78510264 intron variant G/A;T snv
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 1 2019 2019
dbSNP: rs10485912
rs10485912 		7 78714953 intron variant C/T snv 0.20
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.700 1.000 1 2013 2013
dbSNP: rs113805659
rs113805659 		1.000 0.080 7 78663475 intron variant G/C snv 6.1E-02
CUI: C1611184
Disease: Calcification of coronary artery
Calcification of coronary artery 		Nutritional and Metabolic Diseases; Cardiovascular Diseases 0.700 1.000 1 2017 2017
dbSNP: rs113805659
rs113805659 		1.000 0.080 7 78663475 intron variant G/C snv 6.1E-02
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.700 1.000 1 2017 2017
dbSNP: rs12539913
rs12539913 		1.000 7 79143230 intron variant G/A snv 3.7E-02
CUI: C0869220
Disease: Adverse effects, not elsewhere classified
Adverse effects, not elsewhere classified 		0.700 1.000 1 2019 2019
dbSNP: rs323167
rs323167 		1.000 0.040 7 78707361 intron variant C/T snv 0.68
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.700 1.000 1 2017 2017
dbSNP: rs4727751
rs4727751 		1.000 0.040 7 78707618 intron variant T/G snv 0.41
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.700 1.000 1 2015 2015
dbSNP: rs62468583
rs62468583 		7 78534107 intron variant A/T snv 7.2E-02
CUI: C1314691
Disease: Age at menarche
Age at menarche 		Behavior and Behavior Mechanisms 0.700 1.000 1 2019 2019
dbSNP: rs74388387
rs74388387 		0.925 0.080 7 79037327 intron variant A/C snv 1.6E-02
CUI: C2931384
Disease: Moyamoya disease 1
Moyamoya disease 1 		Nervous System Diseases; Cardiovascular Diseases 0.700 1.000 1 2018 2018
dbSNP: rs74388387
rs74388387 		0.925 0.080 7 79037327 intron variant A/C snv 1.6E-02
CUI: C0026654
Disease: Moyamoya Disease
Moyamoya Disease 		Nervous System Diseases; Cardiovascular Diseases 0.700 1.000 1 2018 2018
dbSNP: rs7805441
rs7805441 		7 78492141 intron variant C/G;T snv
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 1 2019 2019
dbSNP: rs1135402911
rs1135402911 		1.000 7 78019685 frameshift variant C/- delins
CUI: C4539896
Disease: NEPHROTIC SYNDROME, TYPE 15
NEPHROTIC SYNDROME, TYPE 15 		0.700 0
dbSNP: rs1135402912
rs1135402912 		1.000 7 79453250 frameshift variant GGTTCCTG/- delins
CUI: C4539896
Disease: NEPHROTIC SYNDROME, TYPE 15
NEPHROTIC SYNDROME, TYPE 15 		0.700 0
dbSNP: rs1135402913
rs1135402913 		1.000 7 78125727 frameshift variant -/GCCAGTCT delins
CUI: C4539896
Disease: NEPHROTIC SYNDROME, TYPE 15
NEPHROTIC SYNDROME, TYPE 15 		0.700 0
dbSNP: rs1496770
rs1496770 		0.925 0.120 7 78629694 intron variant C/T snv 0.43
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 1.000 1 2010 2010
dbSNP: rs1496770
rs1496770 		0.925 0.120 7 78629694 intron variant C/T snv 0.43
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 1.000 1 2010 2010
dbSNP: rs2160322
rs2160322 		0.851 0.160 7 78462650 intron variant G/A;C snv
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases 		Digestive System Diseases 0.010 1.000 1 2009 2009
dbSNP: rs2160322
rs2160322 		0.851 0.160 7 78462650 intron variant G/A;C snv
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		Digestive System Diseases 0.010 1.000 1 2009 2009
dbSNP: rs2160322
rs2160322 		0.851 0.160 7 78462650 intron variant G/A;C snv
CUI: C0677607
Disease: Hashimoto Disease
Hashimoto Disease 		Endocrine System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs2160322
rs2160322 		0.851 0.160 7 78462650 intron variant G/A;C snv
CUI: C0018213
Disease: Graves Disease
Graves Disease 		Eye Diseases; Immune System Diseases; Endocrine System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs2160322
rs2160322 		0.851 0.160 7 78462650 intron variant G/A;C snv
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		Digestive System Diseases 0.010 1.000 1 2009 2009
dbSNP: rs321986
rs321986 		0.882 0.080 7 78668745 intron variant G/A;C;T snv
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2019 2019
dbSNP: rs321986
rs321986 		0.882 0.080 7 78668745 intron variant G/A;C;T snv
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2019 2019