SLC6A19, solute carrier family 6 member 19, 340024

N. diseases: 54; N. variants: 18
Disease: Hartnup Disease ×
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: rs121434346
rs121434346 		0.882 0.200 5 1212338 missense variant G/A snv 1.6E-03 1.7E-03
CUI: C0018609
Disease: Hartnup Disease
Hartnup Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases 0.810 1.000 6 2004 2009
dbSNP: rs1251095994
rs1251095994 		1.000 0.200 5 1201846 missense variant G/A snv 7.0E-06
CUI: C0018609
Disease: Hartnup Disease
Hartnup Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases 0.700 1.000 5 2004 2009
dbSNP: rs148139045
rs148139045 		1.000 0.200 5 1213972 missense variant C/T snv 6.8E-05 1.5E-04
CUI: C0018609
Disease: Hartnup Disease
Hartnup Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases 0.700 1.000 5 2004 2009
dbSNP: rs200745023
rs200745023 		1.000 0.200 5 1213524 missense variant T/C snv 5.2E-05 4.3E-05
CUI: C0018609
Disease: Hartnup Disease
Hartnup Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases 0.700 1.000 5 2004 2009
dbSNP: rs200842846
rs200842846 		1.000 0.200 5 1214028 missense variant G/A snv 2.0E-05 7.0E-06
CUI: C0018609
Disease: Hartnup Disease
Hartnup Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases 0.700 1.000 5 2004 2009
dbSNP: rs745524993
rs745524993 		1.000 0.200 5 1221162 missense variant A/G snv 2.0E-05 3.5E-05
CUI: C0018609
Disease: Hartnup Disease
Hartnup Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases 0.700 1.000 5 2004 2009
dbSNP: rs757679627
rs757679627 		1.000 0.200 5 1208820 missense variant G/A;T snv 2.0E-05; 4.0E-06
CUI: C0018609
Disease: Hartnup Disease
Hartnup Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases 0.700 1.000 5 2004 2009
dbSNP: rs762989809
rs762989809 		1.000 0.200 5 1201819 missense variant C/A;T snv 4.0E-06; 2.8E-05
CUI: C0018609
Disease: Hartnup Disease
Hartnup Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases 0.700 1.000 5 2004 2009
dbSNP: rs765501634
rs765501634 		1.000 0.200 5 1218942 missense variant G/A snv 8.0E-06 2.8E-05
CUI: C0018609
Disease: Hartnup Disease
Hartnup Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases 0.700 1.000 5 2004 2009
dbSNP: rs121434347
rs121434347 		1.000 0.200 5 1213517 stop gained C/T snv 4.4E-05 4.3E-05
CUI: C0018609
Disease: Hartnup Disease
Hartnup Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1236852017
rs1236852017 		1.000 0.200 5 1219627 missense variant G/A snv 2.4E-05 7.0E-06
CUI: C0018609
Disease: Hartnup Disease
Hartnup Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases 0.700 0
dbSNP: rs142164435
rs142164435 		1.000 0.200 5 1216652 missense variant C/T snv 1.5E-04 1.2E-04
CUI: C0018609
Disease: Hartnup Disease
Hartnup Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases 0.700 0
dbSNP: rs142979576
rs142979576 		1.000 0.200 5 1216947 splice donor variant T/C;G snv 8.0E-06; 3.0E-04
CUI: C0018609
Disease: Hartnup Disease
Hartnup Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases 0.700 0
dbSNP: rs751554174
rs751554174 		1.000 0.200 5 1221735 missense variant C/T snv 4.8E-05 2.8E-05
CUI: C0018609
Disease: Hartnup Disease
Hartnup Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases 0.700 0
dbSNP: rs758492838
rs758492838 		1.000 0.200 5 1213518 missense variant G/A;C snv 5.6E-05; 4.0E-06
CUI: C0018609
Disease: Hartnup Disease
Hartnup Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases 0.700 0
dbSNP: rs778611489
rs778611489 		1.000 0.200 5 1214060 frameshift variant TG/- delins 4.0E-06 7.0E-06
CUI: C0018609
Disease: Hartnup Disease
Hartnup Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases 0.700 0