Disease: Brachyolmia Type 3 ×
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: rs121912632
rs121912632 		0.882 0.080 12 109792407 missense variant C/T snv
CUI: C0432227
Disease: Brachyolmia Type 3
Brachyolmia Type 3 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.810 1.000 2 2008 2014
dbSNP: rs121912633
rs121912633 		0.790 0.240 12 109792396 missense variant C/A;T snv 4.0E-06
CUI: C0432227
Disease: Brachyolmia Type 3
Brachyolmia Type 3 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.800 1.000 1 2008 2008
dbSNP: rs267607144
rs267607144 		0.716 0.360 12 109800665 missense variant C/T snv
CUI: C0432227
Disease: Brachyolmia Type 3
Brachyolmia Type 3 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0