Disease: Metachondromatosis ×
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: rs121918455
rs121918455 		0.695 0.440 12 112477720 missense variant A/C;G snv
CUI: C0410530
Disease: Metachondromatosis
Metachondromatosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases 0.700 0
dbSNP: rs121918459
rs121918459 		0.662 0.440 12 112450368 missense variant A/G snv 1.2E-05 7.0E-06
CUI: C0410530
Disease: Metachondromatosis
Metachondromatosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases 0.700 0
dbSNP: rs397507520
rs397507520 		0.658 0.520 12 112453279 missense variant G/C;T snv
CUI: C0410530
Disease: Metachondromatosis
Metachondromatosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases 0.700 0
dbSNP: rs397507545
rs397507545 		0.708 0.560 12 112489083 missense variant G/A;C snv 4.0E-06
CUI: C0410530
Disease: Metachondromatosis
Metachondromatosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases 0.700 0