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General Information

Chromosome

Reference Location

start end

dbSNP rsid

(e.g. rs31731390)

Individual information

Populations

Individual

Referene Individual

Selected Individuals

Note: Choose individuals and which SNPs to return by comparison. If a reference individual is selected, comparison is to the reference individual allele.

Consequence Type

HIGH

transcript_ablation
splice_acceptor_variant
splice_donor_variant
stop_gained
frameshift_variant
stop_lost
start_lost
transcript_amplification

MODERATE

inframe_insertion
inframe_deletion
missense_variant
protein_altering_variant
regulatory_region_ablation

MODIFIER

coding_sequence_variant
mature_miRNA_variant
5_prime_UTR_variant
3_prime_UTR_variant
non_coding_transcript_exon_variant
intron_variant
NMD_transcript_variant
non_coding_transcript_variant
upstream_gene_variant
downstream_gene_variant
TFBS_ablation
TFBS_amplification
TF_binding_site_variant
regulatory_region_amplification
feature_elongation
regulatory_region_variant
feature_truncation
intergenic_variant

LOW

splice_region_variant
incomplete_terminal_codon_variant
stop_retained_variant
synonymous_variant

Associated Gene Information

Gene Name

(e.g. CDHR3 or ENSGALG00000008109 )

UniprotKB

(e.g. P84247)

Biotype

mRNA　 rRNA　 miRNA snoRNA

Ontology Term

(e.g. GO:0005634)

Ontology Key Words

(e.g. nucleus )