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Detailed information for vg1224506348:

Variant ID: vg1224506348 (JBrowse)Variation Type: SNP
Chromosome: chr12Position: 24506348
Reference Allele: GAlternative Allele: A
Primary Allele: GSecondary Allele: A

Inferred Ancestral Allele : G (evidence from allele frequency in Oryza rufipogon: G: 0.98, A: 0.01, others allele: 0.00, population size: 68. )

Flanking Sequence (100 bp) in Reference Genome:


ACGAATGGCGGCGGCAACGTGTCGGCGGTCAGGGACCCCGACATGTGGCGTGACGGCCTCCGCATTGCCTCGGCCGTGAGGCCCTCCCCCGTGGCGTCGA[G/A]
CCGCCGACTACTTCGATCTTGGTTGGTCCATTCTTGTTAAATCCAAACAGATGTTGTCCCTAGATTGGATGAGTTCATTTGTCAAATTGACAGTGAGAAA

Reverse complement sequence

TTTCTCACTGTCAATTTGACAAATGAACTCATCCAATCTAGGGACAACATCTGTTTGGATTTAACAAGAATGGACCAACCAAGATCGAAGTAGTCGGCGG[C/T]
TCGACGCCACGGGGGAGGGCCTCACGGCCGAGGCAATGCGGAGGCCGTCACGCCACATGTCGGGGTCCCTGACCGCCGACACGTTGCCGCCGCCATTCGT

Allele Frequencies:

Populations Population SizeFrequency of G(primary allele) Frequency of A(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 72.10% 13.40% 2.16% 12.31% NA
All Indica  2759 87.00% 1.30% 0.47% 11.20% NA
All Japonica  1512 60.10% 34.90% 4.96% 0.07% NA
Aus  269 3.70% 0.40% 1.86% 94.05% NA
Indica I  595 63.40% 0.00% 1.34% 35.29% NA
Indica II  465 95.50% 3.20% 0.00% 1.29% NA
Indica III  913 97.30% 0.80% 0.00% 1.97% NA
Indica Intermediate  786 88.00% 1.80% 0.64% 9.54% NA
Temperate Japonica  767 74.20% 19.00% 6.78% 0.00% NA
Tropical Japonica  504 35.90% 60.90% 3.17% 0.00% NA
Japonica Intermediate  241 66.00% 30.70% 2.90% 0.41% NA
VI/Aromatic  96 29.20% 58.30% 2.08% 10.42% NA
Intermediate  90 65.60% 16.70% 7.78% 10.00% NA

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg1224506348 G -> DEL LOC_Os12g39690.1 N frameshift_variant Average:40.114; most accessible tissue: Minghui63 panicle, score: 78.92 N N N N
vg1224506348 G -> A LOC_Os12g39690.1 missense_variant ; p.Ser20Asn; MODERATE nonsynonymous_codon ; S20N Average:40.114; most accessible tissue: Minghui63 panicle, score: 78.92 unknown unknown DELETERIOUS 0.05

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg1224506348 8.39E-06 5.39E-08 mr1888 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