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: rs753044214
rs753044214 		1.000 17 67903835 frameshift variant A/-;AA delins
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 19 1995 2017
dbSNP: rs12602912
rs12602912 		1.000 0.040 17 67873957 intron variant C/G;T snv
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 2 2017 2018
dbSNP: rs1135401778
rs1135401778 		0.752 0.400 17 67854315 frameshift variant T/- del
CUI: C0454641
Disease: Expressive language delay
Expressive language delay 		0.700 1.000 1 2017 2017
dbSNP: rs1135401778
rs1135401778 		0.752 0.400 17 67854315 frameshift variant T/- del
CUI: C1839798
Disease: Long nose
Long nose 		0.700 1.000 1 2017 2017
dbSNP: rs1135401778
rs1135401778 		0.752 0.400 17 67854315 frameshift variant T/- del
CUI: C4023408
Disease: Abnormality of mouth size
Abnormality of mouth size 		0.700 1.000 1 2017 2017
dbSNP: rs1135401778
rs1135401778 		0.752 0.400 17 67854315 frameshift variant T/- del
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 1.000 1 2017 2017
dbSNP: rs1135401778
rs1135401778 		0.752 0.400 17 67854315 frameshift variant T/- del
CUI: C1840069
Disease: Sandal gap
Sandal gap 		0.700 1.000 1 2017 2017
dbSNP: rs12449442
rs12449442 		17 67951524 non coding transcript exon variant G/A snv 0.22
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs12449442
rs12449442 		17 67951524 non coding transcript exon variant G/A snv 0.22
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 1 2019 2019
dbSNP: rs12449442
rs12449442 		17 67951524 non coding transcript exon variant G/A snv 0.22
CUI: C0205682
Disease: Waist-Hip Ratio
Waist-Hip Ratio 		0.700 1.000 1 2019 2019
dbSNP: rs1425998598
rs1425998598 		0.763 0.240 17 67918802 missense variant G/A;C snv 1.2E-05
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 1.000 1 2017 2017
dbSNP: rs1425998598
rs1425998598 		0.763 0.240 17 67918802 missense variant G/A;C snv 1.2E-05
CUI: C1851883
Disease: Small, conical teeth
Small, conical teeth 		0.700 1.000 1 2017 2017
dbSNP: rs1425998598
rs1425998598 		0.763 0.240 17 67918802 missense variant G/A;C snv 1.2E-05
CUI: C4022873
Disease: Small pituitary gland
Small pituitary gland 		0.700 1.000 1 2017 2017
dbSNP: rs1425998598
rs1425998598 		0.763 0.240 17 67918802 missense variant G/A;C snv 1.2E-05
CUI: C0423112
Disease: Short palpebral fissure
Short palpebral fissure 		0.700 1.000 1 2017 2017
dbSNP: rs1425998598
rs1425998598 		0.763 0.240 17 67918802 missense variant G/A;C snv 1.2E-05
CUI: C1844820
Disease: Range of joint movement increased
Range of joint movement increased 		0.700 1.000 1 2017 2017
dbSNP: rs1425998598
rs1425998598 		0.763 0.240 17 67918802 missense variant G/A;C snv 1.2E-05
CUI: C0426429
Disease: Broad nasal tip
Broad nasal tip 		0.700 1.000 1 2017 2017
dbSNP: rs1425998598
rs1425998598 		0.763 0.240 17 67918802 missense variant G/A;C snv 1.2E-05
CUI: C3714796
Disease: Isolated somatotropin deficiency
Isolated somatotropin deficiency 		0.700 1.000 1 2017 2017
dbSNP: rs1425998598
rs1425998598 		0.763 0.240 17 67918802 missense variant G/A;C snv 1.2E-05
CUI: C1837733
Disease: Broad lateral eyebrow
Broad lateral eyebrow 		0.700 1.000 1 2017 2017
dbSNP: rs1425998598
rs1425998598 		0.763 0.240 17 67918802 missense variant G/A;C snv 1.2E-05
CUI: C1842060
Disease: Prominent supraorbital ridges
Prominent supraorbital ridges 		0.700 1.000 1 2017 2017
dbSNP: rs1425998598
rs1425998598 		0.763 0.240 17 67918802 missense variant G/A;C snv 1.2E-05
CUI: C4024855
Disease: Lack of subcutaneous fatty tissue
Lack of subcutaneous fatty tissue 		0.700 1.000 1 2017 2017
dbSNP: rs1425998598
rs1425998598 		0.763 0.240 17 67918802 missense variant G/A;C snv 1.2E-05
CUI: C1867131
Disease: Broad hallux
Broad hallux 		0.700 1.000 1 2017 2017
dbSNP: rs1425998598
rs1425998598 		0.763 0.240 17 67918802 missense variant G/A;C snv 1.2E-05
CUI: C0454641
Disease: Expressive language delay
Expressive language delay 		0.700 1.000 1 2017 2017
dbSNP: rs1425998598
rs1425998598 		0.763 0.240 17 67918802 missense variant G/A;C snv 1.2E-05
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		0.700 1.000 1 2017 2017
dbSNP: rs1555639076
rs1555639076 		0.790 0.400 17 67893677 splice donor variant A/- delins
CUI: C0426415
Disease: Large nose
Large nose 		0.700 1.000 1 2017 2017
dbSNP: rs1555639076
rs1555639076 		0.790 0.400 17 67893677 splice donor variant A/- delins
CUI: C0575802
Disease: Small hand
Small hand 		0.700 1.000 1 2017 2017