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Detailed information for vg1204092989:

Variant ID: vg1204092989 (JBrowse)Variation Type: SNP
Chromosome: chr12Position: 4092989
Reference Allele: TAlternative Allele: C
Primary Allele: TSecondary Allele: C

Inferred Ancestral Allele : T (evidence from allele frequency in Oryza rufipogon: T: 0.98, C: 0.02, others allele: 0.00, population size: 120. )

Flanking Sequence (100 bp) in Reference Genome:


TTGTGAATTTACTATTTACATTTACACACCGTGCAAGATCTCCTCGAGGCTGCCTCTCGCCATGTAGTCGTAGACCAGCATGAGCTTGGCGCTGCCGCCG[T/C]
CGTCGTCGAGGCAGAACCCGGCGAGCGGCATGGTGTTGTCGTGGCGGACGGAGCTGACGATCCCCATCTCCTAGACGAGCTCCTCCATCACCTTGTCTGA

Reverse complement sequence

TCAGACAAGGTGATGGAGGAGCTCGTCTAGGAGATGGGGATCGTCAGCTCCGTCCGCCACGACAACACCATGCCGCTCGCCGGGTTCTGCCTCGACGACG[A/G]
CGGCGGCAGCGCCAAGCTCATGCTGGTCTACGACTACATGGCGAGAGGCAGCCTCGAGGAGATCTTGCACGGTGTGTAAATGTAAATAGTAAATTCACAA

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 42.20% 33.70% 17.94% 6.09% NA
All Indica  2759 31.50% 34.90% 25.77% 7.83% NA
All Japonica  1512 57.60% 33.20% 5.42% 3.77% NA
Aus  269 43.10% 37.20% 15.61% 4.09% NA
Indica I  595 13.30% 39.80% 41.68% 5.21% NA
Indica II  465 21.50% 32.30% 34.41% 11.83% NA
Indica III  913 46.90% 33.60% 12.38% 7.12% NA
Indica Intermediate  786 33.20% 34.40% 24.17% 8.27% NA
Temperate Japonica  767 81.50% 14.60% 2.09% 1.83% NA
Tropical Japonica  504 37.90% 54.20% 5.36% 2.58% NA
Japonica Intermediate  241 22.80% 48.50% 16.18% 12.45% NA
VI/Aromatic  96 90.60% 4.20% 5.21% 0.00% NA
Intermediate  90 60.00% 26.70% 8.89% 4.44% NA

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg1204092989 T -> C LOC_Os12g08050.1 missense_variant ; p.Asp23Gly; MODERATE nonsynonymous_codon ; D23G Average:39.19; most accessible tissue: Callus, score: 84.474 benign -0.232 TOLERATED 0.09
vg1204092989 T -> DEL LOC_Os12g08050.1 N frameshift_variant Average:39.19; most accessible tissue: Callus, score: 84.474 N N N N

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg1204092989 4.50E-06 4.14E-06 mr1800 Ind_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