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Detailed information for vg1204378188:

Variant ID: vg1204378188 (JBrowse)Variation Type: SNP
Chromosome: chr12Position: 4378188
Reference Allele: CAlternative Allele: T
Primary Allele: CSecondary Allele: T

Inferred Ancestral Allele : C (evidence from allele frequency in Oryza rufipogon: C: 1.03, others allele: 0.00, population size: 36. )

Flanking Sequence (100 bp) in Reference Genome:


TCCCGCAGCTCCTGCAGCTCCAGCTCCAGTCCCAGCTCCTGTCCCAGTGTCAGCTCCCGCGTCCGCTCTCTCCTTCGCTCCAGCATTAGCCGCCAGGGGT[C/T]
CAGCCAGTGGCAACGGGGGTTGGTTGCCTGCTACTCCCAGTGGCAGCCGCGACCACAGCAGCAGCAGTTCCAGTGGCTCGGAGCCGGGCAGCGGCGAGAT

Reverse complement sequence

ATCTCGCCGCTGCCCGGCTCCGAGCCACTGGAACTGCTGCTGCTGTGGTCGCGGCTGCCACTGGGAGTAGCAGGCAACCAACCCCCGTTGCCACTGGCTG[G/A]
ACCCCTGGCGGCTAATGCTGGAGCGAAGGAGAGAGCGGACGCGGGAGCTGACACTGGGACAGGAGCTGGGACTGGAGCTGGAGCTGCAGGAGCTGCGGGA

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 36.00% 4.10% 30.03% 29.86% NA
All Indica  2759 25.00% 5.90% 35.77% 33.27% NA
All Japonica  1512 56.30% 1.10% 19.51% 23.02% NA
Aus  269 37.20% 3.00% 40.89% 18.96% NA
Indica I  595 44.20% 4.40% 27.56% 23.87% NA
Indica II  465 30.30% 6.50% 25.81% 37.42% NA
Indica III  913 5.90% 6.80% 49.40% 37.90% NA
Indica Intermediate  786 29.60% 5.70% 32.06% 32.57% NA
Temperate Japonica  767 80.60% 0.10% 6.65% 12.65% NA
Tropical Japonica  504 29.80% 2.60% 41.47% 26.19% NA
Japonica Intermediate  241 34.90% 1.20% 14.52% 49.38% NA
VI/Aromatic  96 15.60% 2.10% 13.54% 68.75% NA
Intermediate  90 48.90% 4.40% 15.56% 31.11% NA

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg1204378188 C -> DEL LOC_Os12g08610.1 N frameshift_variant Average:12.871; most accessible tissue: Callus, score: 35.2 N N N N
vg1204378188 C -> T LOC_Os12g08610.1 missense_variant ; p.Ser309Phe; MODERATE nonsynonymous_codon ; S309F Average:12.871; most accessible tissue: Callus, score: 35.2 unknown unknown DELETERIOUS 0.01

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg1204378188 3.97E-06 NA mr1169 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