Disease: Cystinosis ×
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: rs786204501
rs786204501 		0.851 0.160 17 3640222 frameshift variant GACT/- delins 4.9E-05
CUI: C4316899
Disease: Cystinosis
Cystinosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.710 1.000 6 1998 2016
dbSNP: rs113994205
rs113994205 		0.827 0.160 17 3655305 stop gained G/A snv 4.8E-05 9.8E-05
CUI: C4316899
Disease: Cystinosis
Cystinosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.710 1.000 1 1998 1998
dbSNP: rs113994204
rs113994204 		0.925 0.080 17 3648904 inframe deletion TATTACTATCCTTGAGCTCCC/- del 2.0E-05 2.1E-05
CUI: C4316899
Disease: Cystinosis
Cystinosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 5 1998 2016
dbSNP: rs786204420
rs786204420 		1.000 0.080 17 3659926 frameshift variant -/G delins
CUI: C4316899
Disease: Cystinosis
Cystinosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 5 1998 2016
dbSNP: rs113994207
rs113994207 		0.851 0.160 17 3656703 missense variant G/A snv 5.6E-05 4.2E-05
CUI: C4316899
Disease: Cystinosis
Cystinosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 4 1999 2001
dbSNP: rs113994208
rs113994208 		1.000 0.080 17 3656727 missense variant G/A snv 8.0E-06 1.4E-05
CUI: C4316899
Disease: Cystinosis
Cystinosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 4 1998 2012
dbSNP: rs760256854
rs760256854 		1.000 0.080 17 3656725 inframe deletion ACG/- delins 7.0E-06
CUI: C4316899
Disease: Cystinosis
Cystinosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 4 1998 2004
dbSNP: rs267606754
rs267606754 		0.882 0.160 17 3655307 missense variant C/T snv 8.0E-06 7.0E-06
CUI: C4316899
Disease: Cystinosis
Cystinosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 3 1999 2009
dbSNP: rs550254092
rs550254092 		0.925 0.080 17 3655273 stop gained C/G;T snv 4.0E-06
CUI: C4316899
Disease: Cystinosis
Cystinosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 3 1998 2013
dbSNP: rs786204541
rs786204541 		1.000 0.080 17 3648936 splice region variant GT/CC mnv
CUI: C4316899
Disease: Cystinosis
Cystinosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 3 1999 2003
dbSNP: rs786204550
rs786204550 		1.000 0.080 17 3648905 inframe deletion ATTACTATCCTTGAGCTCCCC/- del
CUI: C4316899
Disease: Cystinosis
Cystinosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 3 1998 2011
dbSNP: rs786204632
rs786204632 		1.000 0.080 17 3658130 inframe deletion CCT/- delins
CUI: C4316899
Disease: Cystinosis
Cystinosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 3 1999 2014
dbSNP: rs113994211
rs113994211 		0.851 0.160 17 3656573 splice donor variant AAGGTACGGCCTTGCCTGCCCTACATC/- delins
CUI: C4316899
Disease: Cystinosis
Cystinosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 2 1999 2001
dbSNP: rs1475322504
rs1475322504 		0.925 0.080 17 3659856 splice acceptor variant A/G snv 4.0E-06
CUI: C4316899
Disease: Cystinosis
Cystinosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 2 2002 2003
dbSNP: rs759623796
rs759623796 		0.851 0.160 17 3658082 frameshift variant GGGAGTGACCACGTGGCTGCAGT/- delins 2.8E-05
CUI: C4316899
Disease: Cystinosis
Cystinosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 2 1999 2015
dbSNP: rs786204667
rs786204667 		1.000 0.080 17 3656586 splice donor variant G/- delins
CUI: C4316899
Disease: Cystinosis
Cystinosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 2 1998 1998
dbSNP: rs1567709909
rs1567709909 		1.000 0.080 17 3655313 frameshift variant C/- delins
CUI: C4316899
Disease: Cystinosis
Cystinosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 1 1999 1999
dbSNP: rs776842972
rs776842972 		1.000 0.080 17 3659875 stop gained C/G;T snv 3.2E-05 2.1E-05
CUI: C4316899
Disease: Cystinosis
Cystinosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 1 1998 1998
dbSNP: rs786204434
rs786204434 		1.000 0.080 17 3655063 frameshift variant -/A delins
CUI: C4316899
Disease: Cystinosis
Cystinosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 1 2002 2002
dbSNP: rs113994206
rs113994206 		1.000 0.080 17 3656498 missense variant T/C snv 4.0E-05 3.9E-05
CUI: C4316899
Disease: Cystinosis
Cystinosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs113994209
rs113994209 		1.000 0.080 17 3658018 frameshift variant -/C delins
CUI: C4316899
Disease: Cystinosis
Cystinosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs113994210
rs113994210 		0.925 0.080 17 3659855 splice region variant C/G;T snv 4.0E-06
CUI: C4316899
Disease: Cystinosis
Cystinosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs746307931
rs746307931 		0.851 0.160 17 3659927 missense variant G/A snv 4.0E-06 7.0E-06
CUI: C4316899
Disease: Cystinosis
Cystinosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs764168489
rs764168489 		0.925 0.080 17 3656569 missense variant T/C snv 4.0E-06
CUI: C4316899
Disease: Cystinosis
Cystinosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs886040970
rs886040970 		0.925 0.080 17 3655288 missense variant A/T snv
CUI: C4316899
Disease: Cystinosis
Cystinosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0