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Detailed information for vg0518597457:

Variant ID: vg0518597457 (JBrowse)Variation Type: SNP
Chromosome: chr05Position: 18597457
Reference Allele: GAlternative Allele: A,T
Primary Allele: GSecondary Allele: A

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


TGTCTATTGTCCTATCCACAAGACAAAGAATCACGATCTCTCGAGCTGTAAAGTTCTCCTCGGCGCCATGAAAGCCCCGTCTCCTAAGTCATACGTCCCC[G/A,T]
CCAGGGATAACGGCAAGGAACAGGGAGCGACTCCAGCCTCAGATCGATTCGTTGGGGTAATCGATCTCGATCCTCACGAACCATCGGTCTTACATCTCCT

Reverse complement sequence

AGGAGATGTAAGACCGATGGTTCGTGAGGATCGAGATCGATTACCCCAACGAATCGATCTGAGGCTGGAGTCGCTCCCTGTTCCTTGCCGTTATCCCTGG[C/T,A]
GGGGACGTATGACTTAGGAGACGGGGCTTTCATGGCGCCGAGGAGAACTTTACAGCTCGAGAGATCGTGATTCTTTGTCTTGTGGATAGGACAATAGACA

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 47.00% 1.60% 7.17% 44.22% T: 0.04%
All Indica  2759 17.10% 1.90% 8.99% 71.95% T: 0.07%
All Japonica  1512 96.70% 0.10% 1.06% 2.18% NA
Aus  269 53.90% 6.70% 23.42% 15.99% NA
Indica I  595 3.90% 0.30% 3.19% 92.61% NA
Indica II  465 11.40% 0.60% 7.31% 80.65% NA
Indica III  913 29.70% 3.60% 14.79% 51.70% T: 0.22%
Indica Intermediate  786 15.80% 1.90% 7.63% 74.68% NA
Temperate Japonica  767 96.20% 0.10% 0.39% 3.26% NA
Tropical Japonica  504 96.40% 0.00% 2.38% 1.19% NA
Japonica Intermediate  241 98.80% 0.00% 0.41% 0.83% NA
VI/Aromatic  96 96.90% 0.00% 2.08% 1.04% NA
Intermediate  90 54.40% 3.30% 11.11% 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
vg0518597457 G -> T LOC_Os05g31930.1 missense_variant ; p.Ala122Ser; MODERATE nonsynonymous_codon ; A122S Average:7.579; most accessible tissue: Callus, score: 30.103 unknown unknown TOLERATED 0.07
vg0518597457 G -> DEL LOC_Os05g31930.1 N frameshift_variant Average:7.579; most accessible tissue: Callus, score: 30.103 N N N N
vg0518597457 G -> A LOC_Os05g31930.1 missense_variant ; p.Ala122Thr; MODERATE nonsynonymous_codon ; A122T Average:7.579; most accessible tissue: Callus, score: 30.103 unknown unknown TOLERATED 0.17

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0518597457 4.98E-06 4.98E-06 mr1981_2 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