COL6A2, collagen type VI alpha 2 chain, 1292

N. diseases: 124; N. variants: 63
Disease: Body Height ×
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: rs112153300
rs112153300 		21 46127560 intron variant G/A snv 8.6E-02
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs184395229
rs184395229 		21 46129449 missense variant G/C;T snv 3.6E-04
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019