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Table 1 Functional significance of the variants by various algorithms

From: Whole-genome sequencing reveals novel genes in ossification of the posterior longitudinal ligament of the thoracic spine in the Chinese population

SNP ID

Gene

Nucleotide change

Protein change

1000G_EAS

SIFT

PolyPhen2

Mutation Assessor

Mutation Taster

GERP++

rs200963433

COL6A6

c.2716C>T

p.Arg906Cys

0.004

D

D

H

D

R

rs201480339

COL9A1

c.1946G>C

p.Gly649Ala

0.001

D

D

H

P

R

rs200212492

TLR1

c.301T>C

p.Ser101Pro

0.001

D

D

H

D

R

rs145135062

TLR1

c.171A>G

p.Ile57Met

0

D

D

M

D

R

  1. 1000G_EAS, 1000 Genomes_East Asian; SIFT (D, deleterious); Polyphen2 (D, probably damaging); Mutation Taster (D, disease causing, P, polymorphism automatic); Mutation Assessor (predicted functional, H, high; M, medium); GERP++ (R, rejected_substitutions)