g:GOSt Gene Group Functional Profiling
 g:Cocoa Compact Compare of Annotations
 g:Convert Gene ID Converter
 g:Sorter Expression Similarity Search
 g:Orth Orthology search
 g:SNPense Convert rsID
Welcome! Contact FAQ R / APIs Beta Archive
J. Reimand, T. Arak, P. Adler, L. Kolberg, S. Reisberg, H. Peterson, J. Vilo: g:Profiler -- a web server for functional interpretation of gene lists (2016 update) Nucleic Acids Research 2016; doi: 10.1093/nar/gkw199 (PDF, more)
Insert list of rs-codes (separated by linebreaks):
or run an example

About this tool

This tool maps given rs-codes to chromosome positions, genes and variant effects.

Variant effect classes are taken from Ensembl and are ordered by severity:

transcript_ablation incomplete_terminal_codon_variant TFBS_ablation
splice_acceptor_variant stop_retained_variant TFBS_amplification
splice_donor_variant synonymous_variant TF_binding_site_variant
stop_gained coding_sequence_variant regulatory_region_ablation
frameshift_variant mature_miRNA_variant regulatory_region_amplification
stop_lost 5_prime_UTR_variant feature_elongation
start_lost 3_prime_UTR_variant regulatory_region_variant
transcript_amplification non_coding_transcript_exon_variant feature_truncation
inframe_insertion intron_variant intergenic_variant
inframe_deletion NMD_transcript_variant
missense_variant non_coding_transcript_variant
protein_altering_variant upstream_gene_variant
splice_region_variant downstream_gene_variant

Only those effects are shown which correspond to given rs-codes. Displayed number shows the number of variant effects.

Database is built on 2.03.2016 and it is based on ftp://ftp.ensembl.org/pub/release-84/variation/gvf/homo_sapiens/