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Detailed information for vg0112317208:

Variant ID: vg0112317208 (JBrowse)Variation Type: SNP
Chromosome: chr01Position: 12317208
Reference Allele: GAlternative Allele: C,T
Primary Allele: CSecondary Allele: G

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


AACGGGTTTGCCAACGGCGGCATGGCCATGCTGTTCCGCCATTGACCTTGTGAATTTGTAGGATGCGCCGGTGGAGATTGGAAAGACCTGGATCCCCCTG[G/C,T]
CACCACGCGTCATCGTTCCGGCCGCCGTCCTCGCCCTTCGTGCGCAAGGGTAAATTAATCATTTTTTCATCCCAACTCATATATACGAATGACAATTGTG

Reverse complement sequence

CACAATTGTCATTCGTATATATGAGTTGGGATGAAAAAATGATTAATTTACCCTTGCGCACGAAGGGCGAGGACGGCGGCCGGAACGATGACGCGTGGTG[C/G,A]
CAGGGGGATCCAGGTCTTTCCAATCTCCACCGGCGCATCCTACAAATTCACAAGGTCAATGGCGGAACAGCATGGCCATGCCGCCGTTGGCAAACCCGTT

Allele Frequencies:

Populations Population SizeFrequency of C(primary allele) Frequency of G(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 92.10% 6.60% 1.23% 0.00% T: 0.02%
All Indica  2759 99.90% 0.10% 0.00% 0.00% NA
All Japonica  1512 75.90% 20.30% 3.84% 0.00% NA
Aus  269 100.00% 0.00% 0.00% 0.00% NA
Indica I  595 99.80% 0.20% 0.00% 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 99.70% 0.30% 0.00% 0.00% NA
Temperate Japonica  767 58.10% 36.20% 5.61% 0.00% NA
Tropical Japonica  504 96.00% 2.00% 1.98% 0.00% NA
Japonica Intermediate  241 90.00% 7.90% 2.07% 0.00% NA
VI/Aromatic  96 100.00% 0.00% 0.00% 0.00% NA
Intermediate  90 94.40% 4.40% 0.00% 0.00% T: 1.11%

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg0112317208 G -> T LOC_Os01g21950.1 missense_variant ; p.Ala49Ser; MODERATE nonsynonymous_codon ; A49S Average:83.897; most accessible tissue: Minghui63 root, score: 92.642 unknown unknown DELETERIOUS 0.00
vg0112317208 G -> C LOC_Os01g21950.1 missense_variant ; p.Ala49Pro; MODERATE nonsynonymous_codon ; A49P Average:83.897; most accessible tissue: Minghui63 root, score: 92.642 unknown unknown DELETERIOUS 0.00

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)
vg0112317208 G C 0.08 -0.01 -0.01 -0.02 0.0 0.0
vg0112317208 G T 0.14 0.03 0.01 0.04 0.05 0.03

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0112317208 NA 1.35E-06 mr1245 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
vg0112317208 8.29E-06 4.84E-08 mr1373 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
vg0112317208 1.28E-07 1.28E-07 mr1373 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
vg0112317208 2.16E-06 NA mr1648 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
vg0112317208 NA 2.28E-08 mr1648 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