Table 1. Initial and replication study phenotypesa.
| Gene | Variation | Initial phenotype | Replication study phenotypes |
| ACAN | VNTR | D | N,D,H,B,S,U,St |
| rs1042631 | D,B | − | |
| ASPN | Allele D14 | S,D | − |
| CASP9 | rs1052576 | H(S) | − |
| CILP | rs2073711 | S | D,S |
| COL1A1 | rs2075555 | D | − |
| COL9A1 | rs696990 | D,B | − |
| COL9A2 | rs137853213 | S | S,D,E |
| COL9A3 | rs61734651 | S | S,D,B,E,∑ |
| COL11A1 | rs1676486 | S | − |
| rs1463035 | B | − | |
| COL11A2 | intron9 | B | − |
| rs2076311 | D | − | |
| rs1799907 | St | D | |
| FAS | rs2234767 | N | − |
| FASLG | rs763110 | N | − |
| GDF5 | rs143383 | X | − |
| IL1A | rs1800587 | B | D,H,E,S |
| rs2071375 | D | − | |
| IL1B | rs1143634 | B | D,E,H,∑ |
| IL1RN | VNTR | H(S) | S |
| IL18RAP | rs1420100 | D | − |
| IL6 | (rs1800795, rs1800796, rs1800796) | S | D |
| IL10 | −1082A/G | D | − |
| −592A/C | D | − | |
| MMP1 | −1607 | D | − |
| MMP2 | −1306C/T | S | − |
| MMP3 | −1171 | X | St |
| MMP9 | rs17576 | S | D |
| −1562C/T | S,N | − | |
| NOS2 | exon22 | H | − |
| NOS3 | −786T/C | H | − |
| SKT | rs16924573 | S | D |
| THBS2 | rs9406328 | S | D |
| VDR | FokI | D | St,U,D,H,E |
| TaqI | D | St,U,D,N,H,E |
a
Disc degeneration phenotype (D = disc signal changes using different classifications, S = disc herniation with sciatica, N = nonspecific discogenic pain with disc degeneration, B = disc contour change; bulge, H = disc contour change; herniation without specified clinical symptoms, E = endplate changes including Modic changes, U = unspecified degenerative phenotype, X = plain radiograph; MRI for some subjects, St = stenosis, disc signal decrease also recorded, ∑ = combination phenotype).