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: rs796052130
rs796052130 		1.000 0.080 4 185408399 missense variant A/C;G snv 4.0E-06; 1.6E-05
CUI: C1840572
Disease: HIP DYSPLASIA, BEUKES TYPE
HIP DYSPLASIA, BEUKES TYPE 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.810 1.000 1 2018 2018
dbSNP: rs1554022725
rs1554022725 		0.882 0.120 4 185403540 missense variant T/G snv
CUI: C4693799
Disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, DI ROCCO TYPE
SPONDYLOEPIMETAPHYSEAL DYSPLASIA, DI ROCCO TYPE 		0.800 1.000 2 2011 2018
dbSNP: rs1554022725
rs1554022725 		0.882 0.120 4 185403540 missense variant T/G snv
CUI: C1328407
Disease: Hip Dysplasia
Hip Dysplasia 		Musculoskeletal Diseases; Wounds and Injuries 0.700 1.000 1 2018 2018
dbSNP: rs1554022725
rs1554022725 		0.882 0.120 4 185403540 missense variant T/G snv
CUI: C1840572
Disease: HIP DYSPLASIA, BEUKES TYPE
HIP DYSPLASIA, BEUKES TYPE 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 1.000 1 2018 2018