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
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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)
Organism
Insert list of rs-codes (separated by linebreaks):
or run an example
>> Static URL
>> Download CSV
Variant effect type
& number of corresponding
transcript ID-s
g# rs-code Chr:pos Gene names
Ensembl gene ID-s
>> g:GOSt
missense variant
splice region 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
1 rs11734132 4:6889792
2 rs7961894 12:121927677 WDR66 ENSG00000158023 3 1
3 rs4305276 2:240555596 DUSP28, ANKMY1 ENSG00000188542, ENSG00000144504 19 6 3
4 rs17396340 1:10226118 MIR1273D, KIF1B ENSG00000054523, ENSG00000264881 4 2
5 rs7616006 3:12226148
6 rs944002 14:103106478 EXOC3L4 ENSG00000205436 3 1 1 2 2
7 rs7694379 4:87265357 AC108516.1 ENSG00000250572 1 1
8 rs3184504 12:111446804 SH2B3 ENSG00000111252 4 1
9 rs700585 5:88856300 MEF2C ENSG00000081189 18 3
10 rs7641175 3:18269920 TBC1D5 ENSG00000131374 1 1
11 rs11628318 14:102573750
12 rs1260326 2:27508073 GCKR ENSG00000084734 2 3 1 1 1
13 rs1558324 12:6180053
14 rs342275 7:106718770 AC004917.1 ENSG00000243797 2 2
15 rs2336384 1:11986006 MFN2 ENSG00000116688 7 3
16 rs8022206 14:68054189 RAD51B ENSG00000182185 14 1 9
17 rs1354034 3:56815721 ARHGEF3 ENSG00000163947 10 2 3
18 rs10761731 10:63267850 JMJD1C ENSG00000171988 6 4
19 rs11789898 9:134060541 AL445931.1, BRD3 ENSG00000169925, ENSG00000235138 2 1 1
20 rs7075195 10:63290899 JMJD1C ENSG00000171988 2 1
21 rs2015599 12:29282547 AC009318.4, AC009318.1, FAR2 ENSG00000064763, ENSG00000275476, ENSG00000257176 7 1 2 1
22 rs13300663 9:4814948 RCL1 ENSG00000120158 4 1
23 rs1172130 1:205275825 TMCC2 ENSG00000133069 7
24 rs11082304 18:23141009 N/A, CABLES1 ENSG00000134508, N/A 8 1 3 1
25 rs10813766 9:331490 DOCK8 ENSG00000107099 9 2 3
26 rs4246215 11:61796827 MIR611, FEN1, FADS1, TMEM258, FADS2 ENSG00000284108, ENSG00000149485, ENSG00000134825, ENSG00000168496, ENSG00000134824 1 2 8 2
27 rs1668871 1:205268009 TMCC2 ENSG00000133069 8 3
28 rs399604 6:33007237 HLA-DOA, N/A N/A, ENSG00000204252 1 3 2 3
29 rs10512627 3:124621375 KALRN ENSG00000160145 6 2
30 rs3731211 9:21986848 CDKN2A, AL359922.1, N/A N/A, ENSG00000264545, ENSG00000147889 7 1 1
31 rs2297067 14:103100448 AL161669.1, EXOC3L4 ENSG00000205436, ENSG00000259444 2 3 1
32 rs8109288 19:16074749 TPM4, AC008894.3 ENSG00000279198, ENSG00000167460 1 3 1 5
33 rs4148441 13:95245953 ABCC4 ENSG00000125257 3
34 rs397969 17:19900934 AKAP10, AC015726.1 ENSG00000270091, ENSG00000108599 2 1
35 rs4521516 5:88804134 MEF2C ENSG00000081189 23 2
36 rs7342306 12:6181927
37 rs441460 6:25548060 CARMIL1 ENSG00000079691 2 1
38 rs559972 17:29487478 TAOK1 ENSG00000160551 3 1
39 rs6993770 8:105569300 ZFPM2 ENSG00000169946 5 1
40 rs1719271 15:64891602 AC069368.1 ENSG00000249240 2 1
41 rs409801 9:4744743 AK3 ENSG00000147853 4
42 rs7550918 1:247512257 GCSAML ENSG00000169224 6
43 rs6065 17:4933086 GP1BA, SLC25A11 ENSG00000185245, ENSG00000108528 2 4
44 rs8006385 14:93034681 ITPK1 ENSG00000100605 11 3
45 rs17568628 5:76751114
46 rs17030845 2:43460740 THADA ENSG00000115970 8 3 2
47 rs17356664 19:45237513 MARK4, EXOC3L2, N/A ENSG00000007047, ENSG00000283632, N/A 1 1 1
48 rs3819299 6:31354590 MIR6891, AL671883.3, HLA-B ENSG00000234745, ENSG00000271581, ENSG00000277402 1 2 2 1 5
49 rs13042885 20:1944061 SIRPA, PDYN-AS1 ENSG00000233896, ENSG00000198053 1 4
50 rs7317038 13:113358583 GRTP1, GRTP1-AS1 ENSG00000139835, ENSG00000225083 4 1 1 2
51 rs10076782 5:159177955 RNF145 ENSG00000145860 7 1 1
52 rs2070729 5:132484229 C5ORF56, IRF1 ENSG00000197536, ENSG00000125347 2 6 2 2 14
53 rs12969657 18:69869260 CD226 ENSG00000150637 5 1 1
54 rs3809566 15:63041525 AC079328.2, TPM1 ENSG00000140416, ENSG00000259498 16 1
55 rs4731120 7:123771169
56 rs6995402 Not found
57 rs625132 2:31259434 EHD3, N/A ENSG00000013016, N/A 2
58 rs16971217 17:35617036 AP2B1 ENSG00000006125 11 1 1 1
59 rs17655730 11:270715
60 rs649729 2:31241519 EHD3, N/A ENSG00000013016, N/A 2
61 rs8076739 17:29387569 MIR4523, RNU4-34P, TAOK1, AC068025.2, AC068025.1 ENSG00000160551, ENSG00000222363, ENSG00000264808, ENSG00000266111, ENSG00000284162 2 2 6
62 rs3811444 1:247876149 TRIM58 ENSG00000162722 1
63 rs6141 3:184372478 POLR2H, THPO, N/A ENSG00000163882, ENSG00000090534, N/A 6 2 22
64 rs10914144 1:171980610 DNM3 ENSG00000197959 6
65 rs3000073 14:105263455 BRF1 ENSG00000185024 8
66 rs9399137 6:135097880 HBS1L ENSG00000112339 1
67 rs210134 6:33572432 GGNBP1, BAK1 ENSG00000204188, ENSG00000030110 1 1 3
68 rs3792366 3:123121029 PDIA5 ENSG00000065485 2 1 1
69 rs4938642 11:119229196 CBL ENSG00000110395 4
70 rs2227831 5:76727669 F2R ENSG00000181104 1
71 rs1034566 22:19996754 ARVCF ENSG00000099889 2 1
72 rs941207 12:56629500 BAZ2A ENSG00000076108 7 2


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/