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: rs768342562
rs768342562 		1.000 0.080 7 40133093 frameshift variant -/T delins 4.0E-06
CUI: C1866504
Disease: Photosensitive Trichothiodystrophy
Photosensitive Trichothiodystrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs137853117
rs137853117 		0.925 0.080 7 40133169 missense variant T/C snv 2.8E-05 7.0E-06
CUI: C1313961
Disease: Trichorrhexis nodosa syndrome
Trichorrhexis nodosa syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 1.000 1 2005 2005
dbSNP: rs137853117
rs137853117 		0.925 0.080 7 40133169 missense variant T/C snv 2.8E-05 7.0E-06
CUI: C4083251
Disease: Trichothiodystrophy, Nonphotosensitive 1
Trichothiodystrophy, Nonphotosensitive 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs869312900
rs869312900 		1.000 0.080 7 40134228 splice donor variant C/A;T snv
CUI: C4083251
Disease: Trichothiodystrophy, Nonphotosensitive 1
Trichothiodystrophy, Nonphotosensitive 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 1.000 1 2016 2016
dbSNP: rs587776532
rs587776532 		1.000 0.080 7 40134291 frameshift variant A/- del 2.1E-05
CUI: C4083251
Disease: Trichothiodystrophy, Nonphotosensitive 1
Trichothiodystrophy, Nonphotosensitive 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs878854339
rs878854339 		1.000 0.080 7 40134416 frameshift variant TGGTG/- delins
CUI: C4083251
Disease: Trichothiodystrophy, Nonphotosensitive 1
Trichothiodystrophy, Nonphotosensitive 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs587776531
rs587776531 		1.000 0.080 7 40134430 frameshift variant CC/- delins
CUI: C4083251
Disease: Trichothiodystrophy, Nonphotosensitive 1
Trichothiodystrophy, Nonphotosensitive 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs747470385
rs747470385 		1.000 0.080 7 40134475 frameshift variant -/G delins
CUI: C4083251
Disease: Trichothiodystrophy, Nonphotosensitive 1
Trichothiodystrophy, Nonphotosensitive 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.010 1.000 1 2018 2018
dbSNP: rs565833937
rs565833937 		1.000 0.080 7 40134482 missense variant C/T snv 4.5E-05
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs137852861
rs137852861 		1.000 0.080 7 40237664 stop gained C/A;T snv 1.2E-05
CUI: C0342873
Disease: Glutaric Aciduria III
Glutaric Aciduria III 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs17171670
rs17171670 		1.000 7 40294343 intron variant T/G snv 8.1E-02
CUI: C1836232
Disease: ACQUIRED IMMUNODEFICIENCY SYNDROME, PROGRESSION TO
ACQUIRED IMMUNODEFICIENCY SYNDROME, PROGRESSION TO 		0.700 1.000 1 2019 2019
dbSNP: rs17171670
rs17171670 		1.000 7 40294343 intron variant T/G snv 8.1E-02
CUI: C0376705
Disease: Viral Load result
Viral Load result 		0.700 1.000 1 2019 2019
dbSNP: rs17171670
rs17171670 		1.000 7 40294343 intron variant T/G snv 8.1E-02
CUI: C1836231
Disease: HIV-1, RESISTANCE TO
HIV-1, RESISTANCE TO 		0.700 1.000 1 2019 2019
dbSNP: rs17171670
rs17171670 		1.000 7 40294343 intron variant T/G snv 8.1E-02
CUI: C1836230
Disease: HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO
HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO 		0.700 1.000 1 2019 2019
dbSNP: rs17171670
rs17171670 		1.000 7 40294343 intron variant T/G snv 8.1E-02
CUI: C1836233
Disease: AIDS, PROGRESSION TO
AIDS, PROGRESSION TO 		0.700 1.000 1 2019 2019
dbSNP: rs10246797
rs10246797 		7 40304762 intron variant C/A;G snv 0.45
CUI: C0428568
Disease: Fasting blood glucose measurement
Fasting blood glucose measurement 		0.700 1.000 1 2009 2009
dbSNP: rs3857747
rs3857747 		7 40322235 intron variant G/C snv 0.68
CUI: C0037369
Disease: Smoking
Smoking 		Behavior and Behavior Mechanisms 0.700 1.000 1 2015 2015
dbSNP: rs3857747
rs3857747 		7 40322235 intron variant G/C snv 0.68
CUI: C1519383
Disease: Smoking Behaviors
Smoking Behaviors 		Behavior and Behavior Mechanisms 0.700 1.000 1 2015 2015
dbSNP: rs186166891
rs186166891 		7 40367277 intron variant A/C;G;T snv
CUI: C0149931
Disease: Migraine Disorders
Migraine Disorders 		Nervous System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs17171703
rs17171703 		7 40376718 intron variant C/T snv 0.11
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.700 1.000 1 2019 2019
dbSNP: rs61693171
rs61693171 		7 40378133 intron variant G/- del 0.81
CUI: C0149931
Disease: Migraine Disorders
Migraine Disorders 		Nervous System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs76206723
rs76206723 		7 40408372 intron variant G/A snv 0.11
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.700 1.000 1 2019 2019
dbSNP: rs4379368
rs4379368 		0.925 0.040 7 40426601 intron variant C/T snv 0.12
CUI: C0149931
Disease: Migraine Disorders
Migraine Disorders 		Nervous System Diseases 0.830 1.000 4 2013 2019
dbSNP: rs4379368
rs4379368 		0.925 0.040 7 40426601 intron variant C/T snv 0.12
CUI: C0338480
Disease: Common Migraine
Common Migraine 		Nervous System Diseases 0.720 1.000 3 2013 2019
dbSNP: rs4379368
rs4379368 		0.925 0.040 7 40426601 intron variant C/T snv 0.12
CUI: C0154723
Disease: Migraine with Aura
Migraine with Aura 		Nervous System Diseases 0.020 1.000 2 2017 2019