SLC26A1, solute carrier family 26 member 1, 10861

N. diseases: 33; N. variants: 24
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: rs121965020
rs121965020 		0.827 0.280 4 987858 stop gained C/T snv 4.7E-04 6.1E-04
CUI: C0086795
Disease: Pfaundler-Hurler Syndrome
Pfaundler-Hurler Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.740 1.000 10 1992 2013
dbSNP: rs121965020
rs121965020 		0.827 0.280 4 987858 stop gained C/T snv 4.7E-04 6.1E-04
CUI: C0023786
Disease: Mucopolysaccharidosis I
Mucopolysaccharidosis I 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.730 1.000 17 1992 2014
dbSNP: rs121965029
rs121965029 		0.851 0.120 4 987916 missense variant G/A snv 9.2E-06 7.0E-06
CUI: C0026708
Disease: Mucopolysaccharidosis V
Mucopolysaccharidosis V 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.730 1.000 10 1993 2019
dbSNP: rs754966840
rs754966840 		0.925 0.120 4 987915 missense variant C/T snv 1.4E-05
CUI: C0023786
Disease: Mucopolysaccharidosis I
Mucopolysaccharidosis I 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.710 1.000 8 1995 2014
dbSNP: rs121965029
rs121965029 		0.851 0.120 4 987916 missense variant G/A snv 9.2E-06 7.0E-06
CUI: C0086795
Disease: Pfaundler-Hurler Syndrome
Pfaundler-Hurler Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.710 1.000 1 1996 1996
dbSNP: rs754966840
rs754966840 		0.925 0.120 4 987915 missense variant C/T snv 1.4E-05
CUI: C0026708
Disease: Mucopolysaccharidosis V
Mucopolysaccharidosis V 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 1.000 8 1993 2015
dbSNP: rs398123260
rs398123260 		1.000 0.120 4 987119 inframe insertion TCGCTCCTGGCC/-;TCGCTCCTGGCCTCGCTCCTGGCC delins 4.9E-05
CUI: C0023786
Disease: Mucopolysaccharidosis I
Mucopolysaccharidosis I 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 1.000 6 1994 2012
dbSNP: rs121965020
rs121965020 		0.827 0.280 4 987858 stop gained C/T snv 4.7E-04 6.1E-04
CUI: C0086431
Disease: Hurler-Scheie Syndrome
Hurler-Scheie Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 1.000 5 1992 2018
dbSNP: rs794726877
rs794726877 		0.925 0.120 4 987236 missense variant G/A snv 9.2E-06 1.4E-05
CUI: C0023786
Disease: Mucopolysaccharidosis I
Mucopolysaccharidosis I 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 1.000 5 1994 2011
dbSNP: rs121965029
rs121965029 		0.851 0.120 4 987916 missense variant G/A snv 9.2E-06 7.0E-06
CUI: C0023786
Disease: Mucopolysaccharidosis I
Mucopolysaccharidosis I 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 1.000 4 1996 2012
dbSNP: rs758452450
rs758452450 		0.925 0.120 4 987873 missense variant G/A;C snv 8.3E-06
CUI: C0086795
Disease: Pfaundler-Hurler Syndrome
Pfaundler-Hurler Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 1.000 4 1994 2016
dbSNP: rs121965020
rs121965020 		0.827 0.280 4 987858 stop gained C/T snv 4.7E-04 6.1E-04
CUI: C0026708
Disease: Mucopolysaccharidosis V
Mucopolysaccharidosis V 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 1.000 3 1992 2013
dbSNP: rs121965022
rs121965022 		1.000 0.120 4 987842 stop gained C/A;T snv 4.1E-06
CUI: C0086795
Disease: Pfaundler-Hurler Syndrome
Pfaundler-Hurler Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 1.000 3 1993 2016
dbSNP: rs1264013707
rs1264013707 		1.000 0.120 4 987243 splice donor variant G/A snv 9.0E-06
CUI: C0023786
Disease: Mucopolysaccharidosis I
Mucopolysaccharidosis I 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 1.000 2 2001 2012
dbSNP: rs1553914737
rs1553914737 		1.000 0.120 4 987085 start lost A/C snv
CUI: C0086795
Disease: Pfaundler-Hurler Syndrome
Pfaundler-Hurler Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 1.000 2 2011 2016
dbSNP: rs794726877
rs794726877 		0.925 0.120 4 987236 missense variant G/A snv 9.2E-06 1.4E-05
CUI: C0086795
Disease: Pfaundler-Hurler Syndrome
Pfaundler-Hurler Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 1.000 2 2002 2011
dbSNP: rs794726878
rs794726878 		0.925 0.120 4 987137 missense variant T/C snv 7.0E-06
CUI: C0086795
Disease: Pfaundler-Hurler Syndrome
Pfaundler-Hurler Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 1.000 2 2015 2015
dbSNP: rs139024319
rs139024319 		1.000 0.080 4 991150 missense variant G/A snv 2.5E-04 1.6E-04
CUI: C1833683
Disease: NEPHROLITHIASIS, CALCIUM OXALATE
NEPHROLITHIASIS, CALCIUM OXALATE 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 1 2016 2016
dbSNP: rs142573758
rs142573758 		1.000 0.080 4 991538 missense variant C/T snv 5.6E-04 6.0E-04
CUI: C1833683
Disease: NEPHROLITHIASIS, CALCIUM OXALATE
NEPHROLITHIASIS, CALCIUM OXALATE 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 1 2016 2016
dbSNP: rs148775298
rs148775298 		4 987896 missense variant C/G snv 2.9E-03 3.7E-03
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs148832260
rs148832260 		1.000 0.080 4 989866 missense variant G/A snv 2.8E-04 3.1E-04
CUI: C1833683
Disease: NEPHROLITHIASIS, CALCIUM OXALATE
NEPHROLITHIASIS, CALCIUM OXALATE 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 1 2016 2016
dbSNP: rs3822020
rs3822020 		4 991939 splice region variant A/G snv 0.67 0.66
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs121965029
rs121965029 		0.851 0.120 4 987916 missense variant G/A snv 9.2E-06 7.0E-06
CUI: C0086431
Disease: Hurler-Scheie Syndrome
Hurler-Scheie Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs1553914740
rs1553914740 		1.000 0.120 4 987087 start lost G/A snv
CUI: C0086795
Disease: Pfaundler-Hurler Syndrome
Pfaundler-Hurler Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs1553914762
rs1553914762 		1.000 0.120 4 987144 frameshift variant GC/A delins
CUI: C0086795
Disease: Pfaundler-Hurler Syndrome
Pfaundler-Hurler Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 0