Source: BEFREE ×
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: rs121908903
rs121908903 		1.000 0.040 6 112069555 missense variant T/C snv
CUI: C0432215
Disease: Progressive pseudorheumatoid dysplasia
Progressive pseudorheumatoid dysplasia 		Musculoskeletal Diseases 0.810 0.909 1 1999 2018
dbSNP: rs782813346
rs782813346 		1.000 0.040 6 112068282 missense variant T/C;G snv 1.2E-05 7.0E-06
CUI: C0432215
Disease: Progressive pseudorheumatoid dysplasia
Progressive pseudorheumatoid dysplasia 		Musculoskeletal Diseases 0.710 1.000 1 1999 2018
dbSNP: rs1022313
rs1022313 		1.000 0.080 6 112053741 upstream gene variant G/A snv 0.22
CUI: C4551649
Disease: Congenital Dysplasia Of The Hip
Congenital Dysplasia Of The Hip 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.010 1.000 1 2018 2018
dbSNP: rs1230345
rs1230345 		1.000 0.080 6 112061110 missense variant G/A;C;T snv 0.26 0.32
CUI: C4551649
Disease: Congenital Dysplasia Of The Hip
Congenital Dysplasia Of The Hip 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.010 1.000 1 2018 2018
dbSNP: rs17073268
rs17073268 		1.000 0.080 6 112062577 intron variant G/A snv 0.24
CUI: C4551649
Disease: Congenital Dysplasia Of The Hip
Congenital Dysplasia Of The Hip 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.010 1.000 1 2018 2018
dbSNP: rs782172825
rs782172825 		1.000 0.040 6 112061139 missense variant G/A snv 2.1E-05
CUI: C0432215
Disease: Progressive pseudorheumatoid dysplasia
Progressive pseudorheumatoid dysplasia 		Musculoskeletal Diseases 0.010 < 0.001 1 2016 2016