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Detailed information for vg1219246262:

Variant ID: vg1219246262 (JBrowse)Variation Type: SNP
Chromosome: chr12Position: 19246262
Reference Allele: TAlternative Allele: C
Primary Allele: TSecondary Allele: C

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


ACGAGCGAAGTCCTGGTCGCGGTGCCTGGCGTAGAGGTCTCTAGTGCTCGCAATGTGGGGCTGCTGCTCCAAGGGAGCGAAGGTGACCCTAGTACGGGTG[T/C]
GTGGCTGGTACCAGCGTAGGTAGGCCTGGTACGCCTCCTCAGTGTGTGGCTCTCCCTCATGGTCCATGACCTCCTCGGTTGCGAGCAACCAGTCCTCAAC

Reverse complement sequence

GTTGAGGACTGGTTGCTCGCAACCGAGGAGGTCATGGACCATGAGGGAGAGCCACACACTGAGGAGGCGTACCAGGCCTACCTACGCTGGTACCAGCCAC[A/G]
CACCCGTACTAGGGTCACCTTCGCTCCCTTGGAGCAGCAGCCCCACATTGCGAGCACTAGAGACCTCTACGCCAGGCACCGCGACCAGGACTTCGCTCGT

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 49.20% 0.30% 14.33% 36.12% NA
All Indica  2759 23.40% 0.50% 22.04% 54.08% NA
All Japonica  1512 96.80% 0.00% 0.40% 2.78% NA
Aus  269 23.80% 0.70% 18.59% 56.88% NA
Indica I  595 23.90% 0.50% 22.02% 53.61% NA
Indica II  465 23.40% 0.00% 23.23% 53.33% NA
Indica III  913 18.90% 0.50% 21.91% 58.60% NA
Indica Intermediate  786 28.20% 0.60% 21.50% 49.62% NA
Temperate Japonica  767 98.40% 0.00% 0.26% 1.30% NA
Tropical Japonica  504 98.00% 0.00% 0.00% 1.98% NA
Japonica Intermediate  241 89.20% 0.00% 1.66% 9.13% NA
VI/Aromatic  96 88.50% 0.00% 5.21% 6.25% NA
Intermediate  90 75.60% 0.00% 8.89% 15.56% NA

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg1219246262 T -> C LOC_Os12g31930.1 missense_variant ; p.His137Arg; MODERATE nonsynonymous_codon ; H137R Average:7.252; most accessible tissue: Callus, score: 23.247 benign 0.231 TOLERATED 1.00
vg1219246262 T -> DEL LOC_Os12g31930.1 N frameshift_variant Average:7.252; most accessible tissue: Callus, score: 23.247 N N N N

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg1219246262 4.53E-07 4.51E-07 mr1760_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
vg1219246262 7.20E-06 7.20E-06 mr1760_2 Ind_All Not Genome-wide association analyses provide genetic and biochemical insights into natural variation in rice metabolism, Nat Genet, 46(7):714-21, PMID:24908251