Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057519394
rs1057519394
SLC9A6
CUI: C2678194
Disease: Mental Retardation, X-Linked, Syndromic, Christianson Type
Mental Retardation, X-Linked, Syndromic, Christianson Type 		G 0.700 CausalMutation CLINVAR

dbSNP: rs1057519394
rs1057519394
SLC9A6
CUI: C1843367
Disease: Poor school performance
Poor school performance 		G 0.700 CausalMutation CLINVAR

dbSNP: rs1064793575
rs1064793575
SLC9A6
CUI: C0036572
Disease: Seizures
Seizures 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs1064793575
rs1064793575
SLC9A6
CUI: C4023342
Disease: Gastrostomy tube feeding in infancy
Gastrostomy tube feeding in infancy 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs1064793575
rs1064793575
SLC9A6
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs1064793575
rs1064793575
SLC9A6
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs1064793575
rs1064793575
SLC9A6
CUI: C0037317
Disease: Sleep disturbances
Sleep disturbances 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs1064793575
rs1064793575
SLC9A6
CUI: C3806482
Disease: Recurrent respiratory infections
Recurrent respiratory infections 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs122461162
rs122461162
SLC9A6
CUI: C2678194
Disease: Mental Retardation, X-Linked, Syndromic, Christianson Type
Mental Retardation, X-Linked, Syndromic, Christianson Type 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1556617455
rs1556617455
SLC9A6
CUI: C2678194
Disease: Mental Retardation, X-Linked, Syndromic, Christianson Type
Mental Retardation, X-Linked, Syndromic, Christianson Type 		A 0.700 GeneticVariation CLINVAR SLC9A6 mutations cause X-linked mental retardation, microcephaly, epilepsy, and ataxia, a phenotype mimicking Angelman syndrome. 18342287

2008
dbSNP: rs1569525357
rs1569525357
SLC9A6
CUI: C2678194
Disease: Mental Retardation, X-Linked, Syndromic, Christianson Type
Mental Retardation, X-Linked, Syndromic, Christianson Type 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1569525894
rs1569525894
SLC9A6
CUI: C4021798
Disease: Impaired use of nonverbal behaviors
Impaired use of nonverbal behaviors 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1569525894
rs1569525894
SLC9A6
CUI: C0349588
Disease: Short stature
Short stature 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1569525894
rs1569525894
SLC9A6
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1569525894
rs1569525894
SLC9A6
CUI: C4024946
Disease: Focal white matter lesions
Focal white matter lesions 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1569525894
rs1569525894
SLC9A6
CUI: C0431352
Disease: Secondary microcephaly
Secondary microcephaly 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1569525894
rs1569525894
SLC9A6
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1569525894
rs1569525894
SLC9A6
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1569525894
rs1569525894
SLC9A6
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1569525894
rs1569525894
SLC9A6
CUI: C0016842
Disease: Congenital pectus excavatum
Congenital pectus excavatum 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1569525894
rs1569525894
SLC9A6
CUI: C0036572
Disease: Seizures
Seizures 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1569525894
rs1569525894
SLC9A6
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1569525894
rs1569525894
SLC9A6
CUI: C0423224
Disease: Sunken eyes
Sunken eyes 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1569525894
rs1569525894
SLC9A6
CUI: C0014877
Disease: Esotropia
Esotropia 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1569525894
rs1569525894
SLC9A6
CUI: C0008489
Disease: Chorea
Chorea 		A 0.700 GeneticVariation CLINVAR