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: rs587777317
rs587777317 		1.000 X 41218440 missense variant T/A snv
CUI: C3806746
Disease: MENTAL RETARDATION, X-LINKED 99
MENTAL RETARDATION, X-LINKED 99 		0.800 1.000 1 2014 2014
dbSNP: rs1555922391
rs1555922391 		1.000 X 41151058 splice donor variant G/A snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 5 2014 2017
dbSNP: rs1555922391
rs1555922391 		1.000 X 41151058 splice donor variant G/A snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 5 2014 2017
dbSNP: rs587777319
rs587777319 		1.000 X 41219135 missense variant C/A;T snv 5.5E-06
CUI: C3806746
Disease: MENTAL RETARDATION, X-LINKED 99
MENTAL RETARDATION, X-LINKED 99 		0.700 1.000 1 2014 2014
dbSNP: rs1555917927
rs1555917927 		1.000 X 41123671 frameshift variant A/- delins
CUI: C4225416
Disease: MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED
MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED 		0.700 0
dbSNP: rs1555930128
rs1555930128 		1.000 X 41201212 frameshift variant C/- del
CUI: C4225416
Disease: MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED
MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED 		0.700 0
dbSNP: rs1555932766
rs1555932766 		0.882 0.080 X 41210540 stop gained C/T snv
CUI: C4021765
Disease: Morphological abnormality of the central nervous system
Morphological abnormality of the central nervous system 		0.700 0
dbSNP: rs1555932766
rs1555932766 		0.882 0.080 X 41210540 stop gained C/T snv
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs1555932766
rs1555932766 		0.882 0.080 X 41210540 stop gained C/T snv
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide 		0.700 0
dbSNP: rs1555932766
rs1555932766 		0.882 0.080 X 41210540 stop gained C/T snv
CUI: C0423112
Disease: Short palpebral fissure
Short palpebral fissure 		0.700 0
dbSNP: rs1555932766
rs1555932766 		0.882 0.080 X 41210540 stop gained C/T snv
CUI: C4225416
Disease: MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED
MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED 		0.700 0
dbSNP: rs1555932766
rs1555932766 		0.882 0.080 X 41210540 stop gained C/T snv
CUI: C3887499
Disease: Renal cyst
Renal cyst 		Pathological Conditions, Signs and Symptoms; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs1555932766
rs1555932766 		0.882 0.080 X 41210540 stop gained C/T snv
CUI: C0281788
Disease: Biventricular hypertrophy
Biventricular hypertrophy 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.700 0
dbSNP: rs1555932766
rs1555932766 		0.882 0.080 X 41210540 stop gained C/T snv
CUI: C1956257
Disease: Pulmonary Stenosis
Pulmonary Stenosis 		Cardiovascular Diseases 0.700 0
dbSNP: rs1555932766
rs1555932766 		0.882 0.080 X 41210540 stop gained C/T snv
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 0
dbSNP: rs1555933969
rs1555933969 		1.000 X 41216161 frameshift variant T/- delins
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 0
dbSNP: rs1569165417
rs1569165417 		0.925 X 41140672 missense variant T/C snv
CUI: C3806746
Disease: MENTAL RETARDATION, X-LINKED 99
MENTAL RETARDATION, X-LINKED 99 		0.700 0
dbSNP: rs1569165417
rs1569165417 		0.925 X 41140672 missense variant T/C snv
CUI: C4225416
Disease: MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED
MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED 		0.700 0
dbSNP: rs587777318
rs587777318 		1.000 X 41230595 frameshift variant A/- del
CUI: C3806746
Disease: MENTAL RETARDATION, X-LINKED 99
MENTAL RETARDATION, X-LINKED 99 		0.700 0
dbSNP: rs869025588
rs869025588 		1.000 X 41168136 stop gained C/T snv
CUI: C4225416
Disease: MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED
MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED 		0.700 0
dbSNP: rs869025589
rs869025589 		1.000 X 41171836 splice acceptor variant A/G snv
CUI: C4225416
Disease: MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED
MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED 		0.700 0
dbSNP: rs869025590
rs869025590 		1.000 X 41170002 frameshift variant -/A ins
CUI: C4225416
Disease: MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED
MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED 		0.700 0
dbSNP: rs869025591
rs869025591 		1.000 X 41188070 stop gained C/T snv
CUI: C4225416
Disease: MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED
MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED 		0.700 0
dbSNP: rs869025592
rs869025592 		1.000 X 41141381 stop gained C/T snv
CUI: C4225416
Disease: MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED
MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED 		0.700 0