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: rs10175338
rs10175338 		0.925 0.080 2 38080501 intron variant G/T snv 0.25
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2017 2017
dbSNP: rs10175338
rs10175338 		0.925 0.080 2 38080501 intron variant G/T snv 0.25
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2017 2017
dbSNP: rs10175368
rs10175368 		0.925 0.080 2 38080719 intron variant C/T snv 0.23
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.010 < 0.001 1 2018 2018
dbSNP: rs10175368
rs10175368 		0.925 0.080 2 38080719 intron variant C/T snv 0.23
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.010 < 0.001 1 2018 2018
dbSNP: rs10175368
rs10175368 		0.925 0.080 2 38080719 intron variant C/T snv 0.23
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		Neoplasms; Male Urogenital Diseases 0.010 1.000 1 2018 2018
dbSNP: rs10175368
rs10175368 		0.925 0.080 2 38080719 intron variant C/T snv 0.23
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		Neoplasms; Male Urogenital Diseases 0.010 1.000 1 2018 2018
dbSNP: rs162558
rs162558 		1.000 0.080 2 38076937 intron variant T/A;C;G snv 0.18
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2007 2007
dbSNP: rs162561
rs162561 		2 38071734 intron variant T/G snv 0.85
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.010 1.000 1 2018 2018
dbSNP: rs2617266
rs2617266 		0.925 0.080 2 38075401 intron variant G/A snv 0.29 0.28
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		Neoplasms; Male Urogenital Diseases 0.010 1.000 1 2008 2008
dbSNP: rs2617266
rs2617266 		0.925 0.080 2 38075401 intron variant G/A snv 0.29 0.28
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		Neoplasms; Male Urogenital Diseases 0.010 1.000 1 2008 2008
dbSNP: rs2855655
rs2855655 		2 38077346 intron variant T/C snv 0.55
CUI: C0406208
Disease: Suntan
Suntan 		0.700 1.000 1 2018 2018
dbSNP: rs4670813
rs4670813 		0.882 0.080 2 38090568 intron variant G/A snv 0.40
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 1 2018 2018
dbSNP: rs4670813
rs4670813 		0.882 0.080 2 38090568 intron variant G/A snv 0.40
CUI: C0153535
Disease: Malignant melanoma of skin of upper limb
Malignant melanoma of skin of upper limb 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 1 2018 2018
dbSNP: rs4670813
rs4670813 		0.882 0.080 2 38090568 intron variant G/A snv 0.40
CUI: C0153536
Disease: Malignant melanoma of skin of lower limb
Malignant melanoma of skin of lower limb 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 1 2018 2018
dbSNP: rs72549387
rs72549387 		0.790 0.120 2 38075218 stop gained C/G;T snv 1.7E-04
CUI: C1856439
Disease: GLAUCOMA 3, PRIMARY CONGENITAL, A
GLAUCOMA 3, PRIMARY CONGENITAL, A 		Eye Diseases 0.800 1.000 23 1998 2012
dbSNP: rs72549387
rs72549387 		0.790 0.120 2 38075218 stop gained C/G;T snv 1.7E-04
CUI: C2981140
Disease: Glaucoma of childhood
Glaucoma of childhood 		Eye Diseases 0.700 1.000 8 2001 2016
dbSNP: rs104893623
rs104893623 		0.925 0.120 2 38075219 stop gained C/T snv 7.0E-06
CUI: C0344559
Disease: Irido-corneo-trabecular dysgenesis (disorder)
Irido-corneo-trabecular dysgenesis (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 2002 2002
dbSNP: rs104893623
rs104893623 		0.925 0.120 2 38075219 stop gained C/T snv 7.0E-06
CUI: C1533041
Disease: Primary congenital glaucoma
Primary congenital glaucoma 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.010 1.000 1 2002 2002
dbSNP: rs72481807
rs72481807 		1.000 0.120 2 38074872 stop gained C/A;T snv 6.9E-06; 6.9E-06
CUI: C1533041
Disease: Primary congenital glaucoma
Primary congenital glaucoma 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.010 1.000 1 2007 2007
dbSNP: rs72549381
rs72549381 		0.925 0.080 2 38071291 stop gained G/A snv 1.2E-05 2.8E-05
CUI: C0020302
Disease: Hydrophthalmos
Hydrophthalmos 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 2001 2001
dbSNP: rs72549381
rs72549381 		0.925 0.080 2 38071291 stop gained G/A snv 1.2E-05 2.8E-05
CUI: C4551507
Disease: Buphthalmos
Buphthalmos 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 2001 2001
dbSNP: rs72549387
rs72549387 		0.790 0.120 2 38075218 stop gained C/G;T snv 1.7E-04
CUI: C1533041
Disease: Primary congenital glaucoma
Primary congenital glaucoma 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.010 1.000 1 2002 2002
dbSNP: rs72549387
rs72549387 		0.790 0.120 2 38075218 stop gained C/G;T snv 1.7E-04
CUI: C0344559
Disease: Irido-corneo-trabecular dysgenesis (disorder)
Irido-corneo-trabecular dysgenesis (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 2002 2002
dbSNP: rs72549387
rs72549387 		0.790 0.120 2 38075218 stop gained C/G;T snv 1.7E-04
CUI: C4310623
Disease: ANTERIOR SEGMENT DYSGENESIS 6
ANTERIOR SEGMENT DYSGENESIS 6 		0.700 0
dbSNP: rs72549387
rs72549387 		0.790 0.120 2 38075218 stop gained C/G;T snv 1.7E-04
CUI: C1832977
Disease: GLAUCOMA 3, PRIMARY INFANTILE, B
GLAUCOMA 3, PRIMARY INFANTILE, B 		Eye Diseases 0.700 0