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Detailed information for vg1217046463:

Variant ID: vg1217046463 (JBrowse)Variation Type: SNP
Chromosome: chr12Position: 17046463
Reference Allele: CAlternative Allele: T
Primary Allele: CSecondary Allele: T

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


CTCGGCTGATGAGGTGCCCGTCAAGGAGATCCCCCTTGGCGATGATGTGTCCAAGACCGCCAAAATTGGCGGAAACCTGGGCGCCAAATAGGAAGGCGCG[C/T]
TTGTCTCCTTCCTTCGGGCAAATTCTGACGTCTTCGCATGGAAGCTGTCAGATATGCCCAGGGTCCTCAAGGAGGTGATCGAGCACCGCTTTGCCGTCCG

Reverse complement sequence

CGGACGGCAAAGCGGTGCTCGATCACCTCCTTGAGGACCCTGGGCATATCTGACAGCTTCCATGCGAAGACGTCAGAATTTGCCCGAAGGAAGGAGACAA[G/A]
CGCGCCTTCCTATTTGGCGCCCAGGTTTCCGCCAATTTTGGCGGTCTTGGACACATCATCGCCAAGGGGGATCTCCTTGACGGGCACCTCATCAGCCGAG

Allele Frequencies:

Populations Population SizeFrequency of C(primary allele) Frequency of T(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 82.30% 1.10% 3.43% 13.18% NA
All Indica  2759 86.70% 0.00% 1.70% 11.56% NA
All Japonica  1512 86.20% 3.30% 4.17% 6.28% NA
Aus  269 24.90% 0.00% 16.36% 58.74% NA
Indica I  595 96.00% 0.00% 0.00% 4.03% NA
Indica II  465 83.20% 0.00% 2.80% 13.98% NA
Indica III  913 84.60% 0.00% 1.97% 13.47% NA
Indica Intermediate  786 84.40% 0.00% 2.04% 13.61% NA
Temperate Japonica  767 91.90% 0.90% 5.08% 2.09% NA
Tropical Japonica  504 86.30% 2.80% 0.79% 10.12% NA
Japonica Intermediate  241 68.00% 12.00% 8.30% 11.62% NA
VI/Aromatic  96 49.00% 0.00% 7.29% 43.75% NA
Intermediate  90 88.90% 0.00% 1.11% 10.00% NA

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg1217046463 C -> DEL LOC_Os12g28830.1 N frameshift_variant Average:65.22; most accessible tissue: Zhenshan97 young leaf, score: 86.22 N N N N
vg1217046463 C -> T LOC_Os12g28830.1 missense_variant ; p.Leu492Phe; MODERATE nonsynonymous_codon ; L492F Average:65.22; most accessible tissue: Zhenshan97 young leaf, score: 86.22 possibly damaging 1.952 DELETERIOUS 0.00

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg1217046463 NA 1.27E-06 mr1691 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
vg1217046463 3.57E-08 1.91E-12 mr1693 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