Search for Variation information by Variation ID:

Please input a variation ID (e.g., vg0722097923).

Detailed information for vg0919909230:

Variant ID: vg0919909230 (JBrowse)Variation Type: SNP
Chromosome: chr09Position: 19909230
Reference Allele: AAlternative Allele: G
Primary Allele: ASecondary Allele: G

Inferred Ancestral Allele : A (evidence from allele frequency in Oryza rufipogon: A: 0.91, G: 0.08, others allele: 0.00, population size: 126. )

Flanking Sequence (100 bp) in Reference Genome:


GTGGCGTAGGATTTCTCCGGCCGGAGCTCGCCGCCGCGGAGGAAGCCGGAGTACCATCGCGCCGAGTTCTTGAGGTACCTCGTCCTCGCCGCGGCGGTGA[A/G]
GTCGACGCCGCACAGGCCAAACCGCAAGCGGTAGCCGTAGAGGAACTCGAACATGTCGAACATCGACCACACGAAGTATCCCCGCGTGTTCGATCCGTTC

Reverse complement sequence

GAACGGATCGAACACGCGGGGATACTTCGTGTGGTCGATGTTCGACATGTTCGAGTTCCTCTACGGCTACCGCTTGCGGTTTGGCCTGTGCGGCGTCGAC[T/C]
TCACCGCCGCGGCGAGGACGAGGTACCTCAAGAACTCGGCGCGATGGTACTCCGGCTTCCTCCGCGGCGGCGAGCTCCGGCCGGAGAAATCCTACGCCAC

Allele Frequencies:

Populations Population SizeFrequency of A(primary allele) Frequency of G(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 88.30% 11.60% 0.04% 0.00% NA
All Indica  2759 89.20% 10.70% 0.07% 0.00% NA
All Japonica  1512 99.90% 0.10% 0.00% 0.00% NA
Aus  269 19.30% 80.70% 0.00% 0.00% NA
Indica I  595 89.60% 10.40% 0.00% 0.00% NA
Indica II  465 91.80% 8.20% 0.00% 0.00% NA
Indica III  913 90.50% 9.50% 0.00% 0.00% NA
Indica Intermediate  786 85.90% 13.90% 0.25% 0.00% NA
Temperate Japonica  767 100.00% 0.00% 0.00% 0.00% NA
Tropical Japonica  504 100.00% 0.00% 0.00% 0.00% NA
Japonica Intermediate  241 99.60% 0.40% 0.00% 0.00% NA
VI/Aromatic  96 78.10% 21.90% 0.00% 0.00% NA
Intermediate  90 84.40% 15.60% 0.00% 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
vg0919909230 A -> G LOC_Os09g33710.1 missense_variant ; p.Phe470Leu; MODERATE nonsynonymous_codon ; F470L Average:86.236; most accessible tissue: Minghui63 root, score: 92.615 unknown unknown TOLERATED 0.25

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)
vg0919909230 A G 0.05 0.04 0.06 0.04 0.06 0.06

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0919909230 7.27E-17 6.92E-21 mr1216 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
vg0919909230 9.76E-12 9.60E-18 mr1216 Ind_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
vg0919909230 8.02E-06 8.67E-25 mr1817 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
vg0919909230 NA 1.90E-08 mr1158_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
vg0919909230 9.46E-11 NA mr1793_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
vg0919909230 7.43E-11 7.39E-14 mr1793_2 Ind_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
vg0919909230 NA 1.31E-19 mr1817_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
vg0919909230 NA 6.64E-06 mr1952_2 Ind_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