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Detailed information for vg1204312554:

Variant ID: vg1204312554 (JBrowse)Variation Type: SNP
Chromosome: chr12Position: 4312554
Reference Allele: CAlternative Allele: T
Primary Allele: CSecondary Allele: T

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


ATTTTGTCTTACAGCCGATCATTCCCAAGTCTTATAATTGCAGAAAAAGAAGACTGCGGTGAAGAAGAAATCGGCTGCAACAACATCTAAACCAGTTCCA[C/T]
CAGTAAGATAGTTTTAACTTTTATTAGTTAATTTTTTAGCCAATTCTGTCTGACACTTGTTTCCTTTCAGCCTTCACCTCCTCCTTCTCCTCCTGTACAA

Reverse complement sequence

TTGTACAGGAGGAGAAGGAGGAGGTGAAGGCTGAAAGGAAACAAGTGTCAGACAGAATTGGCTAAAAAATTAACTAATAAAAGTTAAAACTATCTTACTG[G/A]
TGGAACTGGTTTAGATGTTGTTGCAGCCGATTTCTTCTTCACCGCAGTCTTCTTTTTCTGCAATTATAAGACTTGGGAATGATCGGCTGTAAGACAAAAT

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 30.30% 19.10% 17.92% 32.75% NA
All Indica  2759 14.00% 27.10% 24.54% 34.32% NA
All Japonica  1512 56.70% 1.70% 7.14% 34.46% NA
Aus  269 46.80% 40.10% 10.78% 2.23% NA
Indica I  595 13.10% 16.30% 16.64% 53.95% NA
Indica II  465 12.30% 30.30% 18.06% 39.35% NA
Indica III  913 13.10% 32.20% 33.63% 21.03% NA
Indica Intermediate  786 16.70% 27.60% 23.79% 31.93% NA
Temperate Japonica  767 82.30% 1.00% 2.09% 14.60% NA
Tropical Japonica  504 28.00% 3.00% 14.88% 54.17% NA
Japonica Intermediate  241 35.30% 1.20% 7.05% 56.43% NA
VI/Aromatic  96 27.10% 3.10% 12.50% 57.29% NA
Intermediate  90 38.90% 16.70% 23.33% 21.11% NA

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg1204312554 C -> DEL LOC_Os12g08500.1 N frameshift_variant Average:14.802; most accessible tissue: Callus, score: 28.566 N N N N
vg1204312554 C -> T LOC_Os12g08500.1 missense_variant&splice_region_variant ; p.Pro259Ser; MODERATE nonsynonymous_codon ; P259S Average:14.802; most accessible tissue: Callus, score: 28.566 unknown unknown TOLERATED 0.10

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg1204312554 1.04E-07 7.78E-08 mr1137 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