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: rs137852720
rs137852720 		0.925 0.160 9 137779634 splice acceptor variant G/C snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 8 2005 2018
dbSNP: rs749848324
rs749848324 		1.000 9 137816034 stop gained C/G;T snv 4.0E-06 7.0E-06
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 8 2005 2018
dbSNP: rs35528310
rs35528310 		9 137753559 intron variant G/A;T snv
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 1 2019 2019
dbSNP: rs1057518849
rs1057518849 		0.925 0.080 9 137800985 splice donor variant G/A;C snv 4.0E-06
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs1057518849
rs1057518849 		0.925 0.080 9 137800985 splice donor variant G/A;C snv 4.0E-06
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		0.700 0
dbSNP: rs1057518913
rs1057518913 		0.851 0.320 9 137762822 splice donor variant T/C snv
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.700 0
dbSNP: rs1057518913
rs1057518913 		0.851 0.320 9 137762822 splice donor variant T/C snv
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		0.700 0
dbSNP: rs1057518913
rs1057518913 		0.851 0.320 9 137762822 splice donor variant T/C snv
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs1554888939
rs1554888939 		0.683 0.640 9 137798823 missense variant G/T snv
CUI: C2673410
Disease: Small midface
Small midface 		0.700 0
dbSNP: rs1554888939
rs1554888939 		0.683 0.640 9 137798823 missense variant G/T snv
CUI: C1849340
Disease: Long palpebral fissure
Long palpebral fissure 		0.700 0
dbSNP: rs1554888939
rs1554888939 		0.683 0.640 9 137798823 missense variant G/T snv
CUI: C1844806
Disease: Weight less than 3rd percentile
Weight less than 3rd percentile 		0.700 0
dbSNP: rs1554888939
rs1554888939 		0.683 0.640 9 137798823 missense variant G/T snv
CUI: C1859212
Disease: Limited neck range of motion
Limited neck range of motion 		0.700 0
dbSNP: rs1554888939
rs1554888939 		0.683 0.640 9 137798823 missense variant G/T snv
CUI: C1852464
Disease: Abnormality of the cervical spine
Abnormality of the cervical spine 		0.700 0
dbSNP: rs1554888939
rs1554888939 		0.683 0.640 9 137798823 missense variant G/T snv
CUI: C1850629
Disease: Exaggerated cupid's bow
Exaggerated cupid's bow 		0.700 0
dbSNP: rs1554888939
rs1554888939 		0.683 0.640 9 137798823 missense variant G/T snv
CUI: C0575802
Disease: Small hand
Small hand 		0.700 0
dbSNP: rs1554888939
rs1554888939 		0.683 0.640 9 137798823 missense variant G/T snv
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs1554888939
rs1554888939 		0.683 0.640 9 137798823 missense variant G/T snv
CUI: C0545053
Disease: Advanced bone age
Advanced bone age 		0.700 0
dbSNP: rs1554888939
rs1554888939 		0.683 0.640 9 137798823 missense variant G/T snv
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.700 0
dbSNP: rs1554888939
rs1554888939 		0.683 0.640 9 137798823 missense variant G/T snv
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs1554888939
rs1554888939 		0.683 0.640 9 137798823 missense variant G/T snv
CUI: C4021988
Disease: Abnormality of the lumbar spine
Abnormality of the lumbar spine 		0.700 0
dbSNP: rs1554888939
rs1554888939 		0.683 0.640 9 137798823 missense variant G/T snv
CUI: C0240538
Disease: Convex nasal ridge
Convex nasal ridge 		0.700 0
dbSNP: rs1554888939
rs1554888939 		0.683 0.640 9 137798823 missense variant G/T snv
CUI: C0566620
Disease: Nasal voice
Nasal voice 		0.700 0
dbSNP: rs1554888939
rs1554888939 		0.683 0.640 9 137798823 missense variant G/T snv
CUI: C4021300
Disease: Prominent palatine ridges
Prominent palatine ridges 		0.700 0
dbSNP: rs1554888939
rs1554888939 		0.683 0.640 9 137798823 missense variant G/T snv
CUI: C1861324
Disease: Short philtrum
Short philtrum 		0.700 0
dbSNP: rs1554888939
rs1554888939 		0.683 0.640 9 137798823 missense variant G/T snv
CUI: C0426891
Disease: Broad thumbs
Broad thumbs 		0.700 0