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: rs121918670
rs121918670 		1.000 0.120 1 115034015 stop gained C/T snv 1.6E-05 2.1E-05
CUI: C0271789
Disease: Hypothyroidism, Congenital, Nongoitrous, 4
Hypothyroidism, Congenital, Nongoitrous, 4 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases 0.700 1.000 2 2001 2001
dbSNP: rs121918668
rs121918668 		1.000 0.120 1 115033507 missense variant G/A snv 4.0E-06
CUI: C0271789
Disease: Hypothyroidism, Congenital, Nongoitrous, 4
Hypothyroidism, Congenital, Nongoitrous, 4 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs121918669
rs121918669 		1.000 0.120 1 115033456 stop gained G/A;T snv 1.2E-05
CUI: C0271789
Disease: Hypothyroidism, Congenital, Nongoitrous, 4
Hypothyroidism, Congenital, Nongoitrous, 4 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs755485552
rs755485552 		1.000 0.120 1 115034183 frameshift variant T/- del 1.6E-04 1.7E-04
CUI: C0271789
Disease: Hypothyroidism, Congenital, Nongoitrous, 4
Hypothyroidism, Congenital, Nongoitrous, 4 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs1321108
rs1321108 		0.925 0.080 1 115029744 upstream gene variant A/G snv 0.42
CUI: C0085215
Disease: Ovarian Failure, Premature
Ovarian Failure, Premature 		Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.010 < 0.001 1 2014 2014
dbSNP: rs1321108
rs1321108 		0.925 0.080 1 115029744 upstream gene variant A/G snv 0.42
CUI: C0025322
Disease: Premature Menopause
Premature Menopause 		Female Urogenital Diseases and Pregnancy Complications 0.010 < 0.001 1 2014 2014
dbSNP: rs7530810
rs7530810 		0.925 0.080 1 115027847 upstream gene variant G/A snv 0.39
CUI: C0025322
Disease: Premature Menopause
Premature Menopause 		Female Urogenital Diseases and Pregnancy Complications 0.010 < 0.001 1 2014 2014
dbSNP: rs7530810
rs7530810 		0.925 0.080 1 115027847 upstream gene variant G/A snv 0.39
CUI: C0085215
Disease: Ovarian Failure, Premature
Ovarian Failure, Premature 		Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.010 < 0.001 1 2014 2014