SLC5A5, solute carrier family 5 member 5, 6528

N. diseases: 195; N. variants: 8
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: rs121909174
rs121909174
0.925 0.120 19 17881961 missense variant A/C snv 1.2E-05
CUI: C1848805
Disease: Thyroid Dyshormonogenesis 1
Thyroid Dyshormonogenesis 1
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases 0.800 1.000 4 1997 1999
dbSNP: rs121909176
rs121909176
1.000 0.120 19 17877823 missense variant C/G snv 8.4E-05 2.8E-05
CUI: C1848805
Disease: Thyroid Dyshormonogenesis 1
Thyroid Dyshormonogenesis 1
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases 0.800 1.000 4 1997 1999
dbSNP: rs121909178
rs121909178
1.000 0.120 19 17872596 missense variant G/A;C snv
CUI: C1848805
Disease: Thyroid Dyshormonogenesis 1
Thyroid Dyshormonogenesis 1
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases 0.800 1.000 4 1997 1999
dbSNP: rs121909179
rs121909179
1.000 0.120 19 17888432 missense variant G/A snv
CUI: C1848805
Disease: Thyroid Dyshormonogenesis 1
Thyroid Dyshormonogenesis 1
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases 0.800 1.000 4 1997 1999
dbSNP: rs121909180
rs121909180
1.000 0.120 19 17882160 missense variant G/A snv 4.0E-05 2.1E-05
CUI: C1848805
Disease: Thyroid Dyshormonogenesis 1
Thyroid Dyshormonogenesis 1
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases 0.800 1.000 4 1997 1999
dbSNP: rs121909175
rs121909175
0.925 0.120 19 17877840 stop gained C/A snv 7.0E-06
CUI: C1848805
Disease: Thyroid Dyshormonogenesis 1
Thyroid Dyshormonogenesis 1
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs121909177
rs121909177
1.000 0.120 19 17888397 stop gained C/G;T snv 5.6E-05; 2.0E-05
CUI: C1848805
Disease: Thyroid Dyshormonogenesis 1
Thyroid Dyshormonogenesis 1
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs121909174
rs121909174
0.925 0.120 19 17881961 missense variant A/C snv 1.2E-05
CUI: C0271826
Disease: Iodide transport defect
Iodide transport defect
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases 0.020 1.000 2 1998 2000
dbSNP: rs121909174
rs121909174
0.925 0.120 19 17881961 missense variant A/C snv 1.2E-05
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
Pathological Conditions, Signs and Symptoms; Neoplasms 0.010 1.000 1 1998 1998
dbSNP: rs121909175
rs121909175
0.925 0.120 19 17877840 stop gained C/A snv 7.0E-06
CUI: C0010308
Disease: Congenital Hypothyroidism
Congenital Hypothyroidism
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases 0.010 1.000 1 1997 1997
dbSNP: rs200597118
rs200597118
1.000 0.120 19 17874151 missense variant G/A snv 3.6E-05 2.0E-04
CUI: C0271826
Disease: Iodide transport defect
Iodide transport defect
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases 0.010 1.000 1 2006 2006