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Detailed information for vg0223174676:

Variant ID: vg0223174676 (JBrowse)Variation Type: SNP
Chromosome: chr02Position: 23174676
Reference Allele: GAlternative Allele: T
Primary Allele: GSecondary Allele: T

Inferred Ancestral Allele : G (evidence from allele frequency in Oryza rufipogon: G: 0.99, others allele: 0.00, population size: 268. )

Flanking Sequence (100 bp) in Reference Genome:


GAGAGCTAGGGTGATGTCTGCATGGGCCAAGAGGCCGGTGCCAGCGCCGGAGATAGTGCAGAAGTCATGGGCAAAGTACAACAGCAGCAGTAGGAGTAGA[G/T]
CAGCCAGATTCAGATAGATAGAAGGAAAAAAAAAATACAGATTTGATACAAGTTCAGGAAGGCAAAGCATAGTTTTTTTTTTTTTTGGGTATAAGCTTCT

Reverse complement sequence

AGAAGCTTATACCCAAAAAAAAAAAAAACTATGCTTTGCCTTCCTGAACTTGTATCAAATCTGTATTTTTTTTTTCCTTCTATCTATCTGAATCTGGCTG[C/A]
TCTACTCCTACTGCTGCTGTTGTACTTTGCCCATGACTTCTGCACTATCTCCGGCGCTGGCACCGGCCTCTTGGCCCATGCAGACATCACCCTAGCTCTC

Allele Frequencies:

Populations Population SizeFrequency of G(primary allele) Frequency of T(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 92.50% 5.30% 2.16% 0.00% NA
All Indica  2759 99.90% 0.00% 0.07% 0.00% NA
All Japonica  1512 77.10% 16.40% 6.55% 0.00% NA
Aus  269 100.00% 0.00% 0.00% 0.00% NA
Indica I  595 99.80% 0.00% 0.17% 0.00% NA
Indica II  465 100.00% 0.00% 0.00% 0.00% NA
Indica III  913 100.00% 0.00% 0.00% 0.00% NA
Indica Intermediate  786 99.90% 0.00% 0.13% 0.00% NA
Temperate Japonica  767 62.70% 25.60% 11.73% 0.00% NA
Tropical Japonica  504 98.80% 1.00% 0.20% 0.00% NA
Japonica Intermediate  241 77.20% 19.50% 3.32% 0.00% NA
VI/Aromatic  96 100.00% 0.00% 0.00% 0.00% NA
Intermediate  90 95.60% 3.30% 1.11% 0.00% NA

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg0223174676 G -> T LOC_Os02g38320.1 missense_variant ; p.Ala357Ser; MODERATE nonsynonymous_codon ; A357S Average:74.659; most accessible tissue: Callus, score: 94.241 unknown unknown TOLERATED 0.11

Effects Predicted by Deep Convolutional Neural Networks

For each variant, we constructed two sequences that contain the variation site and the sequence around it, differing only in the variation site. We then used Basenji to predict the chromatin accessibility of each tissue for the two sequences, respectively, and scored the effect of the variant by comparing the changes in chromatin accessibility corresponding to the two genotypes in the 1 kb region around the variation site. The effect score was defined as the logarithmic ratio of the predicted chromatin accessibility of the alternative genotype to the value of the reference genotype.

Var ID Ref Alt Root (RT) Young Leaf (YL) Flag Leaf (FL) Young Panicle (YP) Lemma & Palea (LP) Stamen & Pistil (SP)
vg0223174676 G T -0.05 -0.04 -0.04 -0.12 -0.06 -0.01

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0223174676 8.76E-06 4.89E-06 mr1036_2 All Not Genome-wide association analyses provide genetic and biochemical insights into natural variation in rice metabolism, Nat Genet, 46(7):714-21, PMID:24908251
vg0223174676 1.08E-07 1.08E-07 mr1036_2 Jap_All YES Genome-wide association analyses provide genetic and biochemical insights into natural variation in rice metabolism, Nat Genet, 46(7):714-21, PMID:24908251
vg0223174676 6.90E-06 6.90E-06 mr1181_2 Jap_All Not Genome-wide association analyses provide genetic and biochemical insights into natural variation in rice metabolism, Nat Genet, 46(7):714-21, PMID:24908251
vg0223174676 9.90E-06 NA mr1354_2 All Not Genome-wide association analyses provide genetic and biochemical insights into natural variation in rice metabolism, Nat Genet, 46(7):714-21, PMID:24908251
vg0223174676 2.36E-06 NA mr1923_2 All YES Genome-wide association analyses provide genetic and biochemical insights into natural variation in rice metabolism, Nat Genet, 46(7):714-21, PMID:24908251
vg0223174676 NA 2.05E-06 mr1923_2 Jap_All Not Genome-wide association analyses provide genetic and biochemical insights into natural variation in rice metabolism, Nat Genet, 46(7):714-21, PMID:24908251