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Detailed information for vg1206877221:

Variant ID: vg1206877221 (JBrowse)Variation Type: SNP
Chromosome: chr12Position: 6877221
Reference Allele: TAlternative Allele: C
Primary Allele: TSecondary Allele: C

Inferred Ancestral Allele : T (evidence from allele frequency in Oryza rufipogon: T: 0.94, C: 0.05, others allele: 0.00, population size: 200. )

Flanking Sequence (100 bp) in Reference Genome:


CTCCCCCTGAACTGTGACAAAGTACCTCCAATATCGGGTCTAGTTCCTGGACTAGCCTCATCAAAAGAAACTTCGCAAGTCTCAACAATTTTATTAGTTT[T/C]
CAAAACAAGTACACGATAGCCACGTGAATGTGCGGGGTAACCAAGAAACATTCCATCGGTAGAACGTGCTTCAAACTTGTCTAAATTTCCAGATTTCAAG

Reverse complement sequence

CTTGAAATCTGGAAATTTAGACAAGTTTGAAGCACGTTCTACCGATGGAATGTTTCTTGGTTACCCCGCACATTCACGTGGCTATCGTGTACTTGTTTTG[A/G]
AAACTAATAAAATTGTTGAGACTTGCGAAGTTTCTTTTGATGAGGCTAGTCCAGGAACTAGACCCGATATTGGAGGTACTTTGTCACAGTTCAGGGGGAG

Allele Frequencies:

Populations Population SizeFrequency of T(primary allele) Frequency of C(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 58.50% 1.80% 11.28% 28.42% NA
All Indica  2759 32.90% 0.60% 18.81% 47.70% NA
All Japonica  1512 96.40% 2.60% 0.33% 0.73% NA
Aus  269 94.40% 1.90% 2.23% 1.49% NA
Indica I  595 38.30% 0.00% 12.27% 49.41% NA
Indica II  465 25.60% 0.20% 10.97% 63.23% NA
Indica III  913 26.90% 0.90% 30.12% 42.06% NA
Indica Intermediate  786 39.90% 1.00% 15.27% 43.77% NA
Temperate Japonica  767 94.50% 5.00% 0.00% 0.52% NA
Tropical Japonica  504 98.00% 0.00% 0.79% 1.19% NA
Japonica Intermediate  241 98.80% 0.40% 0.41% 0.41% NA
VI/Aromatic  96 83.30% 15.60% 1.04% 0.00% NA
Intermediate  90 76.70% 7.80% 2.22% 13.33% NA

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg1206877221 T -> C LOC_Os12g12480.1 missense_variant ; p.Lys216Glu; MODERATE nonsynonymous_codon ; K216E Average:43.491; most accessible tissue: Zhenshan97 flag leaf, score: 57.42 benign -1.357 TOLERATED 1.00
vg1206877221 T -> DEL LOC_Os12g12480.1 N frameshift_variant Average:43.491; most accessible tissue: Zhenshan97 flag leaf, score: 57.42 N N N N

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg1206877221 7.03E-07 2.72E-07 mr1940 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