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Detailed information for vg1218447354:

Variant ID: vg1218447354 (JBrowse)Variation Type: SNP
Chromosome: chr12Position: 18447354
Reference Allele: CAlternative Allele: G
Primary Allele: CSecondary Allele: G

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


CCAAATGGTGGTTCAAAAGAAGCAGGTTGTTCCAACTGCAACGAGCAAAAATCTGCAACCTGCAGTCTGGAGAGCTTTGACAGAATAACTTCGGGAATCT[C/G]
TCTGATAGGATTTGACCTGAGAAGCAAGTACTGCAACTTAAAAAGGAGTCCAAGCTCTTGAGGCAAGTCTTTGATTTTATTATCTGATAAATTCAGGTAA

Reverse complement sequence

TTACCTGAATTTATCAGATAATAAAATCAAAGACTTGCCTCAAGAGCTTGGACTCCTTTTTAAGTTGCAGTACTTGCTTCTCAGGTCAAATCCTATCAGA[G/C]
AGATTCCCGAAGTTATTCTGTCAAAGCTCTCCAGACTGCAGGTTGCAGATTTTTGCTCGTTGCAGTTGGAACAACCTGCTTCTTTTGAACCACCATTTGG

Allele Frequencies:

Populations Population SizeFrequency of C(primary allele) Frequency of G(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 44.50% 2.00% 4.59% 48.94% NA
All Indica  2759 20.70% 0.00% 3.77% 75.53% NA
All Japonica  1512 88.00% 6.20% 4.23% 1.65% NA
Aus  269 20.10% 0.00% 17.47% 62.45% NA
Indica I  595 39.50% 0.00% 3.70% 56.81% NA
Indica II  465 9.20% 0.20% 4.09% 86.45% NA
Indica III  913 10.80% 0.00% 3.29% 85.87% NA
Indica Intermediate  786 24.60% 0.00% 4.20% 71.25% NA
Temperate Japonica  767 81.00% 11.20% 6.52% 1.30% NA
Tropical Japonica  504 97.60% 0.00% 1.59% 0.79% NA
Japonica Intermediate  241 90.00% 2.90% 2.49% 4.56% NA
VI/Aromatic  96 82.30% 0.00% 0.00% 17.71% NA
Intermediate  90 76.70% 0.00% 2.22% 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
vg1218447354 C -> DEL LOC_Os12g30720.1 N frameshift_variant Average:23.222; most accessible tissue: Zhenshan97 panicle, score: 65.386 N N N N
vg1218447354 C -> G LOC_Os12g30720.1 missense_variant ; p.Glu619Gln; MODERATE nonsynonymous_codon ; E619Q Average:23.222; most accessible tissue: Zhenshan97 panicle, score: 65.386 benign 1.135 TOLERATED 0.05

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg1218447354 1.51E-07 4.10E-07 mr1458_2 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