SLC9A6, solute carrier family 9 member A6, 10479

N. diseases: 210; N. variants: 15
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: rs730882187
rs730882187 		1.000 0.280 X 135998188 splice region variant AA/CC mnv
CUI: C2678194
Disease: Mental Retardation, X-Linked, Syndromic, Christianson Type
Mental Retardation, X-Linked, Syndromic, Christianson Type 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs886037619
rs886037619 		1.000 0.280 X 136002171 inframe deletion AAAGTG/- delins
CUI: C2678194
Disease: Mental Retardation, X-Linked, Syndromic, Christianson Type
Mental Retardation, X-Linked, Syndromic, Christianson Type 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs730882188
rs730882188 		1.000 0.280 X 135998486 frameshift variant AT/- del
CUI: C2678194
Disease: Mental Retardation, X-Linked, Syndromic, Christianson Type
Mental Retardation, X-Linked, Syndromic, Christianson Type 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs398124224
rs398124224 		1.000 0.280 X 136012979 stop gained C/T snv
CUI: C2678194
Disease: Mental Retardation, X-Linked, Syndromic, Christianson Type
Mental Retardation, X-Linked, Syndromic, Christianson Type 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.010 1.000 1 2013 2013
dbSNP: rs122461162
rs122461162 		1.000 0.280 X 136024365 stop gained C/T snv
CUI: C2678194
Disease: Mental Retardation, X-Linked, Syndromic, Christianson Type
Mental Retardation, X-Linked, Syndromic, Christianson Type 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs587784398
rs587784398 		1.000 0.280 X 135985685 frameshift variant G/- del
CUI: C2678194
Disease: Mental Retardation, X-Linked, Syndromic, Christianson Type
Mental Retardation, X-Linked, Syndromic, Christianson Type 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1556617455
rs1556617455 		1.000 0.280 X 136002214 splice donor variant G/A snv
CUI: C2678194
Disease: Mental Retardation, X-Linked, Syndromic, Christianson Type
Mental Retardation, X-Linked, Syndromic, Christianson Type 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 1.000 1 2008 2008
dbSNP: rs1569525357
rs1569525357 		1.000 0.280 X 136024339 missense variant G/A snv
CUI: C2678194
Disease: Mental Retardation, X-Linked, Syndromic, Christianson Type
Mental Retardation, X-Linked, Syndromic, Christianson Type 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs398123003
rs398123003 		1.000 0.280 X 136030154 stop gained G/T snv
CUI: C2678194
Disease: Mental Retardation, X-Linked, Syndromic, Christianson Type
Mental Retardation, X-Linked, Syndromic, Christianson Type 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs398122849
rs398122849 		1.000 0.280 X 136010554 inframe deletion GGTGCTGCT/- del
CUI: C2678194
Disease: Mental Retardation, X-Linked, Syndromic, Christianson Type
Mental Retardation, X-Linked, Syndromic, Christianson Type 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1064793575
rs1064793575 		0.925 0.040 X 136016706 frameshift variant GT/- delins
CUI: C4023342
Disease: Gastrostomy tube feeding in infancy
Gastrostomy tube feeding in infancy 		0.700 0
dbSNP: rs1064793575
rs1064793575 		0.925 0.040 X 136016706 frameshift variant GT/- delins
CUI: C0037317
Disease: Sleep disturbances
Sleep disturbances 		Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1064793575
rs1064793575 		0.925 0.040 X 136016706 frameshift variant GT/- delins
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs1064793575
rs1064793575 		0.925 0.040 X 136016706 frameshift variant GT/- delins
CUI: C0036572
Disease: Seizures
Seizures 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs1064793575
rs1064793575 		0.925 0.040 X 136016706 frameshift variant GT/- delins
CUI: C3806482
Disease: Recurrent respiratory infections
Recurrent respiratory infections 		Infections; Respiratory Tract Diseases 0.700 0
dbSNP: rs1064793575
rs1064793575 		0.925 0.040 X 136016706 frameshift variant GT/- delins
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		Musculoskeletal Diseases 0.700 0
dbSNP: rs1057519394
rs1057519394 		1.000 0.280 X 136002195 frameshift variant T/- delins
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.700 0
dbSNP: rs1057519394
rs1057519394 		1.000 0.280 X 136002195 frameshift variant T/- delins
CUI: C2678194
Disease: Mental Retardation, X-Linked, Syndromic, Christianson Type
Mental Retardation, X-Linked, Syndromic, Christianson Type 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs587784399
rs587784399 		1.000 0.280 X 136044696 stop gained T/G snv
CUI: C2678194
Disease: Mental Retardation, X-Linked, Syndromic, Christianson Type
Mental Retardation, X-Linked, Syndromic, Christianson Type 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1569525894
rs1569525894 		0.790 0.280 X 136040055 frameshift variant TCTTCCTTAACCACCGC/- delins
CUI: C0423224
Disease: Sunken eyes
Sunken eyes 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1569525894
rs1569525894 		0.790 0.280 X 136040055 frameshift variant TCTTCCTTAACCACCGC/- delins
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		0.700 0
dbSNP: rs1569525894
rs1569525894 		0.790 0.280 X 136040055 frameshift variant TCTTCCTTAACCACCGC/- delins
CUI: C0016842
Disease: Congenital pectus excavatum
Congenital pectus excavatum 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs1569525894
rs1569525894 		0.790 0.280 X 136040055 frameshift variant TCTTCCTTAACCACCGC/- delins
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs1569525894
rs1569525894 		0.790 0.280 X 136040055 frameshift variant TCTTCCTTAACCACCGC/- delins
CUI: C0036572
Disease: Seizures
Seizures 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs1569525894
rs1569525894 		0.790 0.280 X 136040055 frameshift variant TCTTCCTTAACCACCGC/- delins
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0