COL10A1, collagen type X alpha 1 chain, 1300

N. diseases: 76; N. variants: 21
Disease: Kashin-Beck Disease ×
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: rs142463796
rs142463796 		1.000 0.040 6 116121734 missense variant C/T snv 6.8E-03 2.2E-03
CUI: C2745963
Disease: Kashin-Beck Disease
Kashin-Beck Disease 		Musculoskeletal Diseases 0.010 1.000 1 2017 2017
dbSNP: rs2228547
rs2228547 		1.000 0.040 6 116120483 missense variant C/A;G snv 1.2E-05; 0.14
CUI: C2745963
Disease: Kashin-Beck Disease
Kashin-Beck Disease 		Musculoskeletal Diseases 0.010 1.000 1 2017 2017