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Detailed information for vg0224380989:

Variant ID: vg0224380989 (JBrowse)Variation Type: SNP
Chromosome: chr02Position: 24380989
Reference Allele: TAlternative Allele: C,G
Primary Allele: TSecondary Allele: C

Inferred Ancestral Allele : T (evidence from allele frequency in Oryza rufipogon: T: 0.99, others allele: 0.00, population size: 259. )

Flanking Sequence (100 bp) in Reference Genome:


CTTTATAGACATGGTTCACACATGATAGACCATGTCGACTTCATAGCCATCTGAATGCCGTCCAGATTACGGGCCAATATTTTTGAACTCTTTCCATATT[T/C,G]
TTGAGGTGTAAAAGACAAGCTTTCACATAGAAAATCGTCAAAATCATATTCTGTACCGAATCTACAGTTCCTGATAACACCATCGGGATGGCAACCCGAA

Reverse complement sequence

TTCGGGTTGCCATCCCGATGGTGTTATCAGGAACTGTAGATTCGGTACAGAATATGATTTTGACGATTTTCTATGTGAAAGCTTGTCTTTTACACCTCAA[A/G,C]
AATATGGAAAGAGTTCAAAAATATTGGCCCGTAATCTGGACGGCATTCAGATGGCTATGAAGTCGACATGGTCTATCATGTGTGAACCATGTCTATAAAG

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 72.30% 5.10% 1.86% 20.78% NA
All Indica  2759 69.50% 6.30% 1.92% 22.29% NA
All Japonica  1512 78.20% 2.10% 0.93% 18.78% NA
Aus  269 74.70% 4.50% 1.86% 18.96% NA
Indica I  595 67.40% 11.80% 1.01% 19.83% NA
Indica II  465 70.30% 3.40% 2.80% 23.44% NA
Indica III  913 66.20% 5.40% 1.97% 26.51% NA
Indica Intermediate  786 74.60% 4.80% 2.04% 18.58% NA
Temperate Japonica  767 89.00% 2.20% 0.65% 8.08% NA
Tropical Japonica  504 62.10% 1.00% 1.39% 35.52% NA
Japonica Intermediate  241 77.60% 3.70% 0.83% 17.84% NA
VI/Aromatic  96 53.10% 21.90% 12.50% 12.50% NA
Intermediate  90 71.10% 2.20% 4.44% 22.22% NA

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg0224380989 T -> G LOC_Os02g40270.1 missense_variant ; p.Lys384Gln; MODERATE N Average:67.852; most accessible tissue: Callus, score: 83.908 N N N N
vg0224380989 T -> DEL LOC_Os02g40270.1 N frameshift_variant Average:67.852; most accessible tissue: Callus, score: 83.908 N N N N
vg0224380989 T -> C LOC_Os02g40270.1 missense_variant ; p.Lys384Glu; MODERATE nonsynonymous_codon ; K384E Average:67.852; most accessible tissue: Callus, score: 83.908 benign 0.883 DELETERIOUS 0.03

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0224380989 2.37E-06 2.37E-06 mr1384 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