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Detailed information for vg0814909930:

Variant ID: vg0814909930 (JBrowse)Variation Type: SNP
Chromosome: chr08Position: 14909930
Reference Allele: CAlternative Allele: A
Primary Allele: CSecondary Allele: A

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


GGCGTTGCCCATGAACACGAGGTTTGCGGCGGCGACGTCCCGCCCCACGGCTGCGAAGTCGTAGTCGAAGGAGAGCGCCGCCGCGGCGCGGAGGGTGGTG[C/A]
AGCAGAGGAAGAGGTGGAGGAGGACATGGCTGGCCATGTTCATCTGCTTTGCTGGCCACCTTACATTGTTATTGCTGCGGCTACTTAGCGTGGGCGTCGT

Reverse complement sequence

ACGACGCCCACGCTAAGTAGCCGCAGCAATAACAATGTAAGGTGGCCAGCAAAGCAGATGAACATGGCCAGCCATGTCCTCCTCCACCTCTTCCTCTGCT[G/T]
CACCACCCTCCGCGCCGCGGCGGCGCTCTCCTTCGACTACGACTTCGCAGCCGTGGGGCGGGACGTCGCCGCCGCAAACCTCGTGTTCATGGGCAACGCC

Allele Frequencies:

Populations Population SizeFrequency of C(primary allele) Frequency of A(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 83.50% 16.00% 0.19% 0.36% NA
All Indica  2759 90.70% 8.60% 0.11% 0.54% NA
All Japonica  1512 72.40% 27.20% 0.33% 0.00% NA
Aus  269 99.30% 0.40% 0.00% 0.37% NA
Indica I  595 97.30% 2.40% 0.00% 0.34% NA
Indica II  465 95.10% 4.90% 0.00% 0.00% NA
Indica III  913 83.50% 15.20% 0.22% 1.10% NA
Indica Intermediate  786 91.60% 7.90% 0.13% 0.38% NA
Temperate Japonica  767 97.50% 2.50% 0.00% 0.00% NA
Tropical Japonica  504 43.80% 55.80% 0.40% 0.00% NA
Japonica Intermediate  241 52.30% 46.50% 1.24% 0.00% NA
VI/Aromatic  96 12.50% 87.50% 0.00% 0.00% NA
Intermediate  90 76.70% 21.10% 1.11% 1.11% NA

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg0814909930 C -> A LOC_Os08g24670.1 missense_variant ; p.Cys13Phe; MODERATE nonsynonymous_codon ; C13F Average:88.143; most accessible tissue: Callus, score: 96.669 unknown unknown TOLERATED 0.59
vg0814909930 C -> DEL LOC_Os08g24670.1 N frameshift_variant Average:88.143; most accessible tissue: Callus, score: 96.669 N N N N

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)
vg0814909930 C A -0.03 -0.04 -0.04 -0.04 -0.04 -0.03

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0814909930 NA 2.03E-07 mr1238 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
vg0814909930 NA 9.47E-06 mr1309 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
vg0814909930 NA 9.56E-08 mr1746 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
vg0814909930 NA 1.06E-08 mr1841 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
vg0814909930 2.04E-06 2.04E-06 mr1900 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
vg0814909930 NA 2.72E-06 mr1194_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
vg0814909930 NA 3.75E-07 mr1238_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
vg0814909930 NA 1.56E-06 mr1484_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
vg0814909930 NA 1.31E-07 mr1841_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
vg0814909930 NA 2.46E-06 mr1900_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