COL5A1, collagen type V alpha 1 chain, 1289

N. diseases: 199; N. variants: 69
Disease: Range of joint movement increased ×
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: rs1057518871
rs1057518871 		0.925 0.120 9 134798410 frameshift variant C/- delins
CUI: C1844820
Disease: Range of joint movement increased
Range of joint movement increased 		0.700 0
dbSNP: rs1554726245
rs1554726245 		9 134834982 inframe deletion ACGCCGAGG/- delins
CUI: C1844820
Disease: Range of joint movement increased
Range of joint movement increased 		0.700 0