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: rs554294508
rs554294508 		1.000 8 28717441 missense variant C/T snv 1.2E-05 2.1E-05
CUI: C4479452
Disease: IMMUNOSKELETAL DYSPLASIA WITH NEURODEVELOPMENTAL ABNORMALITIES
IMMUNOSKELETAL DYSPLASIA WITH NEURODEVELOPMENTAL ABNORMALITIES 		0.800 1.000 2 2017 2017
dbSNP: rs770842408
rs770842408 		1.000 8 28718029 missense variant A/G snv 6.0E-05 2.8E-05
CUI: C4479452
Disease: IMMUNOSKELETAL DYSPLASIA WITH NEURODEVELOPMENTAL ABNORMALITIES
IMMUNOSKELETAL DYSPLASIA WITH NEURODEVELOPMENTAL ABNORMALITIES 		0.800 1.000 2 2017 2017
dbSNP: rs747676107
rs747676107 		1.000 8 28717074 missense variant C/A;T snv 8.0E-05; 4.0E-06
CUI: C4479452
Disease: IMMUNOSKELETAL DYSPLASIA WITH NEURODEVELOPMENTAL ABNORMALITIES
IMMUNOSKELETAL DYSPLASIA WITH NEURODEVELOPMENTAL ABNORMALITIES 		0.800 0
dbSNP: rs10448080
rs10448080 		8 28747274 intron variant T/C snv 0.34
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2015 2015
dbSNP: rs2283102
rs2283102 		8 28735051 intron variant A/G;T snv
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs4339595
rs4339595 		1.000 0.040 8 28610492 intron variant A/C snv 0.29
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs7839487
rs7839487 		1.000 0.040 8 28608179 intron variant A/G;T snv
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs1332006145
rs1332006145 		1.000 8 28717596 missense variant C/T snv 4.0E-06 7.0E-06
CUI: C4479452
Disease: IMMUNOSKELETAL DYSPLASIA WITH NEURODEVELOPMENTAL ABNORMALITIES
IMMUNOSKELETAL DYSPLASIA WITH NEURODEVELOPMENTAL ABNORMALITIES 		0.700 0
dbSNP: rs749621890
rs749621890 		0.851 0.040 8 28717012 missense variant C/G;T snv 4.0E-06; 4.0E-06
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs749621890
rs749621890 		0.851 0.040 8 28717012 missense variant C/G;T snv 4.0E-06; 4.0E-06
CUI: C1866730
Disease: Rhizomelia
Rhizomelia 		0.700 0
dbSNP: rs749621890
rs749621890 		0.851 0.040 8 28717012 missense variant C/G;T snv 4.0E-06; 4.0E-06
CUI: C0022821
Disease: Kyphosis deformity of spine
Kyphosis deformity of spine 		Musculoskeletal Diseases 0.700 0
dbSNP: rs749621890
rs749621890 		0.851 0.040 8 28717012 missense variant C/G;T snv 4.0E-06; 4.0E-06
CUI: C4479452
Disease: IMMUNOSKELETAL DYSPLASIA WITH NEURODEVELOPMENTAL ABNORMALITIES
IMMUNOSKELETAL DYSPLASIA WITH NEURODEVELOPMENTAL ABNORMALITIES 		0.700 0
dbSNP: rs749621890
rs749621890 		0.851 0.040 8 28717012 missense variant C/G;T snv 4.0E-06; 4.0E-06
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs749621890
rs749621890 		0.851 0.040 8 28717012 missense variant C/G;T snv 4.0E-06; 4.0E-06
CUI: C0410528
Disease: Skeletal dysplasia
Skeletal dysplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 0
dbSNP: rs749621890
rs749621890 		0.851 0.040 8 28717012 missense variant C/G;T snv 4.0E-06; 4.0E-06
CUI: C1844704
Disease: Platyspondyly
Platyspondyly 		0.700 0