COL1A1, collagen type I alpha 1 chain, 1277

N. diseases: 487; N. variants: 337
Disease: Osteosarcoma of bone ×
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: rs1061970
rs1061970 		0.882 0.040 17 50184491 3 prime UTR variant A/G snv 0.13
CUI: C0585442
Disease: Osteosarcoma of bone
Osteosarcoma of bone 		Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs2075559
rs2075559 		0.882 0.040 17 50189930 intron variant G/A;C;T snv 0.52; 4.0E-06
CUI: C0585442
Disease: Osteosarcoma of bone
Osteosarcoma of bone 		Neoplasms 0.010 1.000 1 2014 2014