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Detailed information for vg1204313213:

Variant ID: vg1204313213 (JBrowse)Variation Type: SNP
Chromosome: chr12Position: 4313213
Reference Allele: TAlternative Allele: C
Primary Allele: TSecondary Allele: C

Inferred Ancestral Allele : C (evidence from allele frequency in Oryza rufipogon: C: 0.74, T: 0.26, others allele: 0.00, population size: 42. )

Flanking Sequence (100 bp) in Reference Genome:


GCCGAACAGCGAGAGCGCAAGGATATTGAGGCCACTATCCAAGCTAACCGACAGCTTGTGCATGAAGAGAAATCCAAGCTTGATCAATTATCTGAAGGCC[T/C]
AATCAAGTCTAACATTGATCGGCTTGAGGCTCGCAAAATTGAACTCTTAGCACAACTTGAAGAATGTAACGCTGAACTGGATATAGAGCACAAAAAGCTA

Reverse complement sequence

TAGCTTTTTGTGCTCTATATCCAGTTCAGCGTTACATTCTTCAAGTTGTGCTAAGAGTTCAATTTTGCGAGCCTCAAGCCGATCAATGTTAGACTTGATT[A/G]
GGCCTTCAGATAATTGATCAAGCTTGGATTTCTCTTCATGCACAAGCTGTCGGTTAGCTTGGATAGTGGCCTCAATATCCTTGCGCTCTCGCTGTTCGGC

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 24.80% 3.50% 17.25% 54.49% NA
All Indica  2759 6.50% 3.00% 22.91% 67.60% NA
All Japonica  1512 57.90% 0.60% 3.04% 38.49% NA
Aus  269 25.30% 26.00% 42.75% 5.95% NA
Indica I  595 8.60% 2.90% 16.13% 72.44% NA
Indica II  465 8.40% 2.20% 18.71% 70.75% NA
Indica III  913 1.30% 2.50% 30.67% 65.50% NA
Indica Intermediate  786 9.80% 4.20% 21.50% 64.50% NA
Temperate Japonica  767 84.10% 0.00% 0.39% 15.51% NA
Tropical Japonica  504 28.40% 1.60% 7.54% 62.50% NA
Japonica Intermediate  241 36.10% 0.40% 2.07% 61.41% NA
VI/Aromatic  96 15.60% 2.10% 5.21% 77.08% NA
Intermediate  90 36.70% 2.20% 18.89% 42.22% NA

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg1204313213 T -> C LOC_Os12g08500.1 missense_variant ; p.Leu429Pro; MODERATE nonsynonymous_codon ; L429P Average:9.006; most accessible tissue: Callus, score: 38.455 benign -0.603 TOLERATED 1.00
vg1204313213 T -> DEL LOC_Os12g08500.1 N frameshift_variant Average:9.006; most accessible tissue: Callus, score: 38.455 N N N N

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg1204313213 5.61E-08 NA mr1534 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