Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1276519904
rs1276519904
0.645 0.520 1 226071445 missense variant A/G snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
0.700 1.000 12 1997 2015
dbSNP: rs1276519904
rs1276519904
0.645 0.520 1 226071445 missense variant A/G snv
CUI: C1849265
Disease: Overgrowth
Overgrowth
0.700 1.000 12 1997 2015
dbSNP: rs1276519904
rs1276519904
0.645 0.520 1 226071445 missense variant A/G snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.700 1.000 12 1997 2015
dbSNP: rs1276519904
rs1276519904
0.645 0.520 1 226071445 missense variant A/G snv
CUI: C0234146
Disease: Absent reflex
Absent reflex
0.700 0
dbSNP: rs1276519904
rs1276519904
0.645 0.520 1 226071445 missense variant A/G snv
CUI: C0700292
Disease: Hypoxemia
Hypoxemia
0.700 0
dbSNP: rs1276519904
rs1276519904
0.645 0.520 1 226071445 missense variant A/G snv
CUI: C0239234
Disease: Low set ears
Low set ears
0.700 0
dbSNP: rs1276519904
rs1276519904
0.645 0.520 1 226071445 missense variant A/G snv
Contracture of the proximal interphalangeal joint of the 3rd finger
0.700 0
dbSNP: rs1276519904
rs1276519904
0.645 0.520 1 226071445 missense variant A/G snv
CUI: C0240379
Disease: Open mouth (finding)
Open mouth (finding)
0.700 0
dbSNP: rs1276519904
rs1276519904
0.645 0.520 1 226071445 missense variant A/G snv
CUI: C0520679
Disease: Sleep Apnea, Obstructive
Sleep Apnea, Obstructive
0.700 0
dbSNP: rs1276519904
rs1276519904
0.645 0.520 1 226071445 missense variant A/G snv
CUI: C1842364
Disease: Central hypotonia
Central hypotonia
0.700 0
dbSNP: rs1276519904
rs1276519904
0.645 0.520 1 226071445 missense variant A/G snv
CUI: C0221766
Disease: Diastasis recti
Diastasis recti
0.700 0
dbSNP: rs1276519904
rs1276519904
0.645 0.520 1 226071445 missense variant A/G snv
CUI: C0038379
Disease: Strabismus
Strabismus
0.700 0
dbSNP: rs1276519904
rs1276519904
0.645 0.520 1 226071445 missense variant A/G snv
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
0.700 0
dbSNP: rs1276519904
rs1276519904
0.645 0.520 1 226071445 missense variant A/G snv
CUI: C4021830
Disease: Bilateral camptodactyly
Bilateral camptodactyly
0.700 0
dbSNP: rs1276519904
rs1276519904
0.645 0.520 1 226071445 missense variant A/G snv
CUI: C1840311
Disease: Laryngeal cleft
Laryngeal cleft
0.700 0
dbSNP: rs1276519904
rs1276519904
0.645 0.520 1 226071445 missense variant A/G snv
CUI: C1865186
Disease: Bell-shaped thorax
Bell-shaped thorax
0.700 0
dbSNP: rs1276519904
rs1276519904
0.645 0.520 1 226071445 missense variant A/G snv
CUI: C4024170
Disease: Localized hirsutism
Localized hirsutism
0.700 0
dbSNP: rs1276519904
rs1276519904
0.645 0.520 1 226071445 missense variant A/G snv
CUI: C0042798
Disease: Low Vision
Low Vision
0.700 0
dbSNP: rs1276519904
rs1276519904
0.645 0.520 1 226071445 missense variant A/G snv
CUI: C0011168
Disease: Deglutition Disorders
Deglutition Disorders
0.700 0
dbSNP: rs1276519904
rs1276519904
0.645 0.520 1 226071445 missense variant A/G snv
CUI: C1857949
Disease: Prominent metopic ridge
Prominent metopic ridge
0.700 0
dbSNP: rs1276519904
rs1276519904
0.645 0.520 1 226071445 missense variant A/G snv
CUI: C4023342
Disease: Gastrostomy tube feeding in infancy
Gastrostomy tube feeding in infancy
0.700 0
dbSNP: rs1276519904
rs1276519904
0.645 0.520 1 226071445 missense variant A/G snv
CUI: C0948187
Disease: Tracheomalacia
Tracheomalacia
0.700 0
dbSNP: rs1276519904
rs1276519904
0.645 0.520 1 226071445 missense variant A/G snv
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly
0.700 0
dbSNP: rs1276519904
rs1276519904
0.645 0.520 1 226071445 missense variant A/G snv
CUI: C0035229
Disease: Respiratory Insufficiency
Respiratory Insufficiency
0.700 0
dbSNP: rs1276519904
rs1276519904
0.645 0.520 1 226071445 missense variant A/G snv
CUI: C0266491
Disease: Neuronal heterotopia
Neuronal heterotopia
0.700 0