rs1276519904, H3-3A

N. diseases: 63
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
617 0.645 0.520 1 226071445 missense variant A/G snv 0.700 1.000 12 1997 2015
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
579 0.645 0.520 1 226071445 missense variant A/G snv 0.700 1.000 12 1997 2015
Overgrowth
CUI: C1849265
Disease: Overgrowth
93 0.645 0.520 1 226071445 missense variant A/G snv 0.700 1.000 12 1997 2015
Absent reflex
CUI: C0234146
Disease: Absent reflex
16 0.645 0.520 1 226071445 missense variant A/G snv 0.700 0
Acid reflux
CUI: C4317146
Disease: Acid reflux
58 0.645 0.520 1 226071445 missense variant A/G snv 0.700 0
Anteverted nostril
CUI: C1840077
Disease: Anteverted nostril
35 0.645 0.520 1 226071445 missense variant A/G snv 0.700 0
Astigmatism
CUI: C0004106
Disease: Astigmatism
45 0.645 0.520 1 226071445 missense variant A/G snv 0.700 0
Bell-shaped thorax
CUI: C1865186
Disease: Bell-shaped thorax
7 0.645 0.520 1 226071445 missense variant A/G snv 0.700 0
Bilateral camptodactyly
CUI: C4021830
Disease: Bilateral camptodactyly
1 0.645 0.520 1 226071445 missense variant A/G snv 0.700 0
Breech Presentation
CUI: C0006157
Disease: Breech Presentation
11 0.645 0.520 1 226071445 missense variant A/G snv 0.700 0
Central hypotonia
CUI: C1842364
Disease: Central hypotonia
25 0.645 0.520 1 226071445 missense variant A/G snv 0.700 0
Cerebral white matter hypoplasia
CUI: C4022908
Disease: Cerebral white matter hypoplasia
3 0.645 0.520 1 226071445 missense variant A/G snv 0.700 0
Constipation
CUI: C0009806
Disease: Constipation
57 0.645 0.520 1 226071445 missense variant A/G snv 0.700 0
Contracture of the proximal interphalangeal joint of the 3rd finger
CUI: C4021467
Disease: Contracture of the proximal interphalangeal joint of the 3rd finger
1 0.645 0.520 1 226071445 missense variant A/G snv 0.700 0
Cortical visual impairment
CUI: C4048268
Disease: Cortical visual impairment
27 0.645 0.520 1 226071445 missense variant A/G snv 0.700 0
Craniosynostosis
CUI: C0010278
Disease: Craniosynostosis
90 0.645 0.520 1 226071445 missense variant A/G snv 0.700 0
Deglutition Disorders
CUI: C0011168
Disease: Deglutition Disorders
50 0.645 0.520 1 226071445 missense variant A/G snv 0.700 0
Depressed nasal bridge
CUI: C1836542
Disease: Depressed nasal bridge
39 0.645 0.520 1 226071445 missense variant A/G snv 0.700 0
Diastasis recti
CUI: C0221766
Disease: Diastasis recti
1 0.645 0.520 1 226071445 missense variant A/G snv 0.700 0
Downward slant of palpebral fissure
CUI: C0423110
Disease: Downward slant of palpebral fissure
49 0.645 0.520 1 226071445 missense variant A/G snv 0.700 0
Exotropia
CUI: C0015310
Disease: Exotropia
23 0.645 0.520 1 226071445 missense variant A/G snv 0.700 0
Facial hypotonia
CUI: C1845251
Disease: Facial hypotonia
6 0.645 0.520 1 226071445 missense variant A/G snv 0.700 0
Flexion contracture of proximal interphalangeal joint
CUI: C0409348
Disease: Flexion contracture of proximal interphalangeal joint
7 0.645 0.520 1 226071445 missense variant A/G snv 0.700 0
Frontal bossing
CUI: C0221354
Disease: Frontal bossing
22 0.645 0.520 1 226071445 missense variant A/G snv 0.700 0
Gastrostomy tube feeding in infancy
CUI: C4023342
Disease: Gastrostomy tube feeding in infancy
19 0.645 0.520 1 226071445 missense variant A/G snv 0.700 0