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: rs137852541
rs137852541 		1.000 0.080 X 107645193 missense variant G/C snv
CUI: C1970827
Disease: Phosphoribosylpyrophosphate Synthetase Superactivity
Phosphoribosylpyrophosphate Synthetase Superactivity 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 1.000 2 1995 2013
dbSNP: rs137852542
rs137852542 		1.000 0.080 X 107639326 missense variant G/C snv
CUI: C1970827
Disease: Phosphoribosylpyrophosphate Synthetase Superactivity
Phosphoribosylpyrophosphate Synthetase Superactivity 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 1.000 2 1995 2013
dbSNP: rs137852543
rs137852543 		1.000 0.080 X 107640980 missense variant C/A snv
CUI: C1970827
Disease: Phosphoribosylpyrophosphate Synthetase Superactivity
Phosphoribosylpyrophosphate Synthetase Superactivity 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 1.000 2 1995 2013
dbSNP: rs137852544
rs137852544 		1.000 0.080 X 107645215 missense variant C/T snv
CUI: C1970827
Disease: Phosphoribosylpyrophosphate Synthetase Superactivity
Phosphoribosylpyrophosphate Synthetase Superactivity 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 1.000 2 1995 2013
dbSNP: rs137852545
rs137852545 		1.000 0.080 X 107645225 missense variant C/G snv
CUI: C1970827
Disease: Phosphoribosylpyrophosphate Synthetase Superactivity
Phosphoribosylpyrophosphate Synthetase Superactivity 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 1.000 2 1995 2013
dbSNP: rs137852540
rs137852540 		0.925 0.080 X 107640936 missense variant A/G snv
CUI: C1970827
Disease: Phosphoribosylpyrophosphate Synthetase Superactivity
Phosphoribosylpyrophosphate Synthetase Superactivity 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 1.000 1 1995 1995
dbSNP: rs80338731
rs80338731 		1.000 0.240 X 107639301 missense variant A/C snv
CUI: C1839566
Disease: CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 5
CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 5 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.800 1.000 1 2007 2007
dbSNP: rs80338732
rs80338732 		1.000 0.240 X 107640939 missense variant T/C snv
CUI: C1839566
Disease: CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 5
CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 5 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.800 1.000 1 2007 2007
dbSNP: rs137852540
rs137852540 		0.925 0.080 X 107640936 missense variant A/G snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 12 1993 2015
dbSNP: rs137852540
rs137852540 		0.925 0.080 X 107640936 missense variant A/G snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 12 1993 2015
dbSNP: rs1556299881
rs1556299881 		1.000 X 107640900 splice acceptor variant A/G snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 12 1993 2015
dbSNP: rs1556299881
rs1556299881 		1.000 X 107640900 splice acceptor variant A/G snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 12 1993 2015
dbSNP: rs587781261
rs587781261 		0.925 0.160 X 107640932 missense variant G/T snv
CUI: C1842137
Disease: Nonsyndromic sensorineural hearing loss
Nonsyndromic sensorineural hearing loss 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 1 2015 2015
dbSNP: rs587781261
rs587781261 		0.925 0.160 X 107640932 missense variant G/T snv
CUI: C1844677
Disease: DEAFNESS, X-LINKED 1 (disorder)
DEAFNESS, X-LINKED 1 (disorder) 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 1 2015 2015
dbSNP: rs587781262
rs587781262 		0.882 0.240 X 107640938 missense variant A/G snv
CUI: C1839566
Disease: CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 5
CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 5 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 1 2015 2015
dbSNP: rs587781262
rs587781262 		0.882 0.240 X 107640938 missense variant A/G snv
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 1 2015 2015
dbSNP: rs587781262
rs587781262 		0.882 0.240 X 107640938 missense variant A/G snv
CUI: C1844677
Disease: DEAFNESS, X-LINKED 1 (disorder)
DEAFNESS, X-LINKED 1 (disorder) 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 1 2015 2015
dbSNP: rs587781263
rs587781263 		0.925 0.240 X 107650000 missense variant G/T snv
CUI: C1839566
Disease: CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 5
CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 5 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 1 2015 2015
dbSNP: rs587781263
rs587781263 		0.925 0.240 X 107650000 missense variant G/T snv
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 1 2015 2015
dbSNP: rs80338676
rs80338676 		1.000 0.200 X 107642415 missense variant T/C snv
CUI: C0796028
Disease: ATAXIA, FATAL X-LINKED, WITH DEAFNESS AND LOSS OF VISION
ATAXIA, FATAL X-LINKED, WITH DEAFNESS AND LOSS OF VISION 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 1 2007 2007
dbSNP: rs1556297584
rs1556297584 		X 107628675 missense variant C/T snv
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		Eye Diseases 0.700 0
dbSNP: rs1556300610
rs1556300610 		X 107645232 missense variant C/T snv
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		Eye Diseases 0.700 0
dbSNP: rs1556300621
rs1556300621 		X 107645286 missense variant C/T snv
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		Eye Diseases 0.700 0
dbSNP: rs1556300621
rs1556300621 		X 107645286 missense variant C/T snv
CUI: C3887873
Disease: Hearing Loss
Hearing Loss 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs180177151
rs180177151 		1.000 0.160 X 107639365 missense variant G/A snv
CUI: C1844677
Disease: DEAFNESS, X-LINKED 1 (disorder)
DEAFNESS, X-LINKED 1 (disorder) 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0