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Detailed information for vg1222743479:

Variant ID: vg1222743479 (JBrowse)Variation Type: SNP
Chromosome: chr12Position: 22743479
Reference Allele: CAlternative Allele: T
Primary Allele: CSecondary Allele: T

Inferred Ancestral Allele : C (evidence from allele frequency in Oryza rufipogon: C: 1.00, others allele: 0.00, population size: 286. )

Flanking Sequence (100 bp) in Reference Genome:


CCACAGGGGCCGTGTTCGTCAATTCTCCCTCAGCTGGACATTGGACTACAACCACTTCTTCATCGTCGATTACTTGCTTGGATCCCCTCAGCTCTGCAAA[C/T]
TCCAGGAGTTTGAACTGTTCTATTTTAATATTGACGCTCAAAATCTGTGGTTCCGCTGTCTGTATTCTGTCTAGCGCATACTCTATGTGTTCTTAGGATT

Reverse complement sequence

AATCCTAAGAACACATAGAGTATGCGCTAGACAGAATACAGACAGCGGAACCACAGATTTTGAGCGTCAATATTAAAATAGAACAGTTCAAACTCCTGGA[G/A]
TTTGCAGAGCTGAGGGGATCCAAGCAAGTAATCGACGATGAAGAAGTGGTTGTAGTCCAATGTCCAGCTGAGGGAGAATTGACGAACACGGCCCCTGTGG

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 83.90% 0.40% 1.67% 14.05% NA
All Indica  2759 72.80% 0.60% 2.83% 23.81% NA
All Japonica  1512 99.70% 0.10% 0.07% 0.13% NA
Aus  269 100.00% 0.00% 0.00% 0.00% NA
Indica I  595 89.20% 0.30% 2.18% 8.24% NA
Indica II  465 80.00% 0.90% 1.08% 18.06% NA
Indica III  913 56.30% 0.50% 4.05% 39.10% NA
Indica Intermediate  786 75.20% 0.60% 2.93% 21.25% NA
Temperate Japonica  767 100.00% 0.00% 0.00% 0.00% NA
Tropical Japonica  504 99.20% 0.20% 0.20% 0.40% NA
Japonica Intermediate  241 100.00% 0.00% 0.00% 0.00% NA
VI/Aromatic  96 99.00% 0.00% 0.00% 1.04% NA
Intermediate  90 95.60% 0.00% 0.00% 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
vg1222743479 C -> DEL LOC_Os12g37120.1 N frameshift_variant Average:72.868; most accessible tissue: Zhenshan97 young leaf, score: 87.004 N N N N
vg1222743479 C -> T LOC_Os12g37120.1 missense_variant ; p.Leu48Phe; MODERATE nonsynonymous_codon ; L48F Average:72.868; most accessible tissue: Zhenshan97 young leaf, score: 87.004 unknown unknown DELETERIOUS 0.00

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg1222743479 6.45E-07 5.77E-07 mr1310_2 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