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Genotype Selection - Genes

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Association Results 1 - 3 of 3 Searched by gene IDs retrieved from gene search.
Genes 1 - 1 of 1 Searched by gene names and/or gene IDs.
SNPs 1 - 50 of 12193 Searched by gene symbols retrieved from gene search.
eQTL Data 1 - 46 of 46 Searched by gene IDs retrieved from gene search.
dbGaP Studies  Retrieving... Searched by traits retrieved from association results.
Genome View  Retrieving... 
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Select broad trait category to limit the items shown in the trait selection.
Select trait for search.  Selection of a trait will limit the trait categories shown above.
Data shown are selected columns matching search criteria, taken directly from NCBI’s GTEx database and browser.  This database aims to provide a central resource to archive and display associations between genetic variation and high-throughput molecular-level phenotypes.  This effort originated with the NIH GTEx roadmap project; however the scope of this resource will be extended to include any available genotype/molecular phenotype datasets.

Get information.Genes

#
Symbol
Description
Location
OMIM
MCUR1mitochondrial calcium uniporter regulator 1 6 : 13,814,557 - 13,786,557616952
{ "section": "GENE", "summary": "1 - 1 of 1", "retstart": 0, "pageSize": 100, "count": 1, "SEQ": { "chr": [ ["6", 13786557, 13814557] ], "markers": { "6": [ ["MCUR1", "NC_000006.12", 13786557, 13814557, "mitochondrial calcium uniporter regulator 1", "C6orf79, CCDC90A, FMP32", 63933] ] }, "unmapped": [ ] } }

Get information.Genome View

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Summary
SNPGeneCountLocation bps
SNP symbolGene symbol1 SNP or geneLocation symbolless than 2M bps
SNP symbolGene symbol2 - 10 SNPs or genesLocation symbolat least 2M bps
SNP symbolGene symbol11 - 20 SNPs or genes 
SNP symbolGene symbolmore than 20 SNPs or genes
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Get information.Association Results

#
  Trait  
rs #
  Context  
  Gene  
  Location  
  P-value  
  Source  
  Study  
Population
  PubMed  
1 Breast Neoplasms rs204247 intergenic RANBP9, MCUR1 6 : 13,722,291 8.000 x 10-9 NHGRI European 23535729
2 Bone Density rs3757251 intron MCUR1 6 : 13,790,904 5.460 x 10-6 dbGaP phs000342 European 17903296
3 Platelet Function Tests rs9647614 intergenic MCUR1, RNF182 6 : 13,843,040 3.043 x 10-5 dbGaP phs000375 European
{ "section": "assoc", "summary": "1 - 3 of 3", "mesh": [ "Bone Density", "Breast Neoplasms", "Platelet Function Tests" ], "genes": [10048, 63933, 221687], "snps": [204247, 3757251, 9647614], "page": 1, "call": "BuildGaP", "pageSize": 50, "recCount": 3 }

Get information.SNPs

1 - 50 of 12193 < Previous Next >  Page  GoDownload Modify Search
#
rs#
Location
Function Class
Gene
Diversity
1 rs2113491325 6 : 13,816,121 intron_variant, downstream_transcript_variant, genic_downstream_transcript_variant, 2KB_upstream_variant, upstream_transcript_variant MCUR1, LOC107986571 n/a
2 rs2113491203 6 : 13,816,031 intron_variant, downstream_transcript_variant, genic_downstream_transcript_variant, 2KB_upstream_variant, upstream_transcript_variant MCUR1, LOC107986571 Yes
3 rs2113491162 6 : 13,816,004 intron_variant, downstream_transcript_variant, genic_downstream_transcript_variant, 2KB_upstream_variant, upstream_transcript_variant MCUR1, LOC107986571 n/a
4 rs2113490809 6 : 13,815,671 upstream_transcript_variant, non_coding_transcript_variant, 2KB_upstream_variant, intron_variant MCUR1, LOC107986571 Yes
5 rs2113490538 6 : 13,815,473 upstream_transcript_variant, non_coding_transcript_variant, 2KB_upstream_variant, intron_variant MCUR1, LOC107986571 n/a
6 rs2113490532 6 : 13,815,470 upstream_transcript_variant, non_coding_transcript_variant, 2KB_upstream_variant, intron_variant MCUR1, LOC107986571 n/a
7 rs2113490527 6 : 13,815,469 upstream_transcript_variant, non_coding_transcript_variant, 2KB_upstream_variant, intron_variant MCUR1, LOC107986571 n/a
8 rs2113490519 6 : 13,815,465 upstream_transcript_variant, non_coding_transcript_variant, 2KB_upstream_variant, intron_variant MCUR1, LOC107986571 n/a
9 rs2113490517 6 : 13,815,464 upstream_transcript_variant, non_coding_transcript_variant, 2KB_upstream_variant, intron_variant MCUR1, LOC107986571 n/a
10 rs2113490495 6 : 13,815,459 upstream_transcript_variant, non_coding_transcript_variant, 2KB_upstream_variant, intron_variant MCUR1, LOC107986571 n/a
11 rs2113490488 6 : 13,815,457 upstream_transcript_variant, non_coding_transcript_variant, 2KB_upstream_variant, intron_variant MCUR1, LOC107986571 n/a
12 rs2113490479 6 : 13,815,455 upstream_transcript_variant, non_coding_transcript_variant, 2KB_upstream_variant, intron_variant MCUR1, LOC107986571 n/a
13 rs2113490477 6 : 13,815,454 upstream_transcript_variant, non_coding_transcript_variant, 2KB_upstream_variant, intron_variant MCUR1, LOC107986571 n/a
14 rs2113490473 6 : 13,815,453 upstream_transcript_variant, non_coding_transcript_variant, 2KB_upstream_variant, intron_variant MCUR1, LOC107986571 n/a
15 rs2113490466 6 : 13,815,451 upstream_transcript_variant, non_coding_transcript_variant, 2KB_upstream_variant, intron_variant MCUR1, LOC107986571 Yes
16 rs2113490460 6 : 13,815,448 upstream_transcript_variant, non_coding_transcript_variant, 2KB_upstream_variant, intron_variant MCUR1, LOC107986571 n/a
17 rs2113490458 6 : 13,815,447 upstream_transcript_variant, non_coding_transcript_variant, 2KB_upstream_variant, intron_variant MCUR1, LOC107986571 n/a
18 rs2113490455 6 : 13,815,446 upstream_transcript_variant, non_coding_transcript_variant, 2KB_upstream_variant, intron_variant MCUR1, LOC107986571 n/a
19 rs2113490447 6 : 13,815,444 upstream_transcript_variant, non_coding_transcript_variant, 2KB_upstream_variant, intron_variant MCUR1, LOC107986571 n/a
20 rs2113490425 6 : 13,815,439 upstream_transcript_variant, non_coding_transcript_variant, 2KB_upstream_variant, intron_variant MCUR1, LOC107986571 n/a
21 rs2113490414 6 : 13,815,436 upstream_transcript_variant, non_coding_transcript_variant, 2KB_upstream_variant, intron_variant MCUR1, LOC107986571 n/a
22 rs2113490405 6 : 13,815,434 upstream_transcript_variant, non_coding_transcript_variant, 2KB_upstream_variant, intron_variant MCUR1, LOC107986571 n/a
23 rs2113490403 6 : 13,815,433 upstream_transcript_variant, non_coding_transcript_variant, 2KB_upstream_variant, intron_variant MCUR1, LOC107986571 n/a
24 rs2113490399 6 : 13,815,432 upstream_transcript_variant, non_coding_transcript_variant, 2KB_upstream_variant, intron_variant MCUR1, LOC107986571 n/a
25 rs2113490392 6 : 13,815,431 upstream_transcript_variant, non_coding_transcript_variant, 2KB_upstream_variant, intron_variant MCUR1, LOC107986571 n/a
26 rs2113490362 6 : 13,815,423 upstream_transcript_variant, non_coding_transcript_variant, 2KB_upstream_variant, intron_variant MCUR1, LOC107986571 n/a
27 rs2113490346 6 : 13,815,414 upstream_transcript_variant, non_coding_transcript_variant, 2KB_upstream_variant, intron_variant MCUR1, LOC107986571 n/a
28 rs2113490316 6 : 13,815,390 upstream_transcript_variant, non_coding_transcript_variant, 2KB_upstream_variant, intron_variant MCUR1, LOC107986571 n/a
29 rs2113490245 6 : 13,815,329 upstream_transcript_variant, non_coding_transcript_variant, 2KB_upstream_variant, intron_variant MCUR1, LOC107986571 n/a
30 rs2113490241 6 : 13,815,328 upstream_transcript_variant, non_coding_transcript_variant, 2KB_upstream_variant, intron_variant MCUR1, LOC107986571 n/a
31 rs2113490075 6 : 13,815,192 upstream_transcript_variant, 2KB_upstream_variant, intron_variant MCUR1, LOC107986571 n/a
32 rs2113490033 6 : 13,815,156 upstream_transcript_variant, 2KB_upstream_variant, intron_variant MCUR1, LOC107986571 n/a
33 rs2113489972 6 : 13,815,096 upstream_transcript_variant, 2KB_upstream_variant, intron_variant MCUR1, LOC107986571 n/a
34 rs2113489927 6 : 13,815,059 upstream_transcript_variant, 2KB_upstream_variant, intron_variant MCUR1, LOC107986571 n/a
35 rs2113489833 6 : 13,814,977 upstream_transcript_variant, 2KB_upstream_variant, intron_variant MCUR1, LOC107986571 n/a
36 rs2113489694 6 : 13,814,863 upstream_transcript_variant, 2KB_upstream_variant, intron_variant MCUR1, LOC107986571 n/a
37 rs2113489541 6 : 13,814,751 upstream_transcript_variant, 2KB_upstream_variant, intron_variant MCUR1, LOC107986571 n/a
38 rs2113489529 6 : 13,814,740 upstream_transcript_variant, 2KB_upstream_variant, intron_variant MCUR1, LOC107986571 Yes
39 rs2113488855 6 : 13,814,474 5_prime_UTR_variant, non_coding_transcript_variant, intron_variant MCUR1, LOC107986571 Yes
40 rs2113488704 6 : 13,814,438 5_prime_UTR_variant, non_coding_transcript_variant, intron_variant MCUR1, LOC107986571 n/a
41 rs2113488276 6 : 13,814,356 missense_variant, non_coding_transcript_variant, intron_variant, coding_sequence_variant MCUR1, LOC107986571 Yes
42 rs2113488251 6 : 13,814,350 missense_variant, non_coding_transcript_variant, intron_variant, coding_sequence_variant MCUR1, LOC107986571 Yes
43 rs2113487959 6 : 13,814,295 synonymous_variant, non_coding_transcript_variant, intron_variant, coding_sequence_variant MCUR1, LOC107986571 n/a
44 rs2113487849 6 : 13,814,276 missense_variant, non_coding_transcript_variant, intron_variant, coding_sequence_variant MCUR1, LOC107986571 n/a
45 rs2113487730 6 : 13,814,252 missense_variant, non_coding_transcript_variant, intron_variant, coding_sequence_variant MCUR1, LOC107986571 Yes
46 rs2113487685 6 : 13,814,243 missense_variant, non_coding_transcript_variant, intron_variant, coding_sequence_variant MCUR1, LOC107986571 Yes
47 rs2113487261 6 : 13,814,137 missense_variant, non_coding_transcript_variant, intron_variant, coding_sequence_variant MCUR1, LOC107986571 Yes
48 rs2113487230 6 : 13,814,127 synonymous_variant, non_coding_transcript_variant, intron_variant, coding_sequence_variant MCUR1, LOC107986571 Yes
49 rs2113487022 6 : 13,814,083 missense_variant, non_coding_transcript_variant, coding_sequence_variant MCUR1, LOC107986571 Yes
50 rs2113486999 6 : 13,814,075 missense_variant, non_coding_transcript_variant, coding_sequence_variant MCUR1, LOC107986571 Yes
{ "section": "SNP", "summary": "1 - 50 of 12193", "genes": [], "retstart": 0, "pageSize": 50, "count": 12193, "SEQ": { "chr": [ ], "markers": { }, "unmapped": [ ] } }

Get information.eQTL Data

gap572635.kquees.asia80gapphegenihttps://572635.kquees.asia/gaphttps://572635.kquees.asiahttps://572635.kquees.asia/gap/phegeni/gaphttps://572635.kquees.asia/gap/phegeni/phegenitrueCE8BEB2875B905A1_0255SID/projects/dbGap/Epiview/EpiView@4.17offeQTLTable_LeQTLTable_Lgapgap15063933 N4IgDgTgpgbg mAFgSwCYgFwgMIFEAcAQroQEz4DsArIfgGzYCcAjAAzsecBiX7AIqwB0AWzh0QAXyA=
1 - 46 of 46 Modify Search
Study
Result count
External references
ID
Name
cis
trans
Markers
Probes
Subjects
PubMed ID
Ind. genotypes
Mol. phenotypes
40FHS_eQTL31879997760562228122634phs000342phs000363
41FHS_eGene_leadQTLs2242562228122634phs000342phs000363
46GTEx_Adipose_Subcutaneous101137023715323phs000424.v6phs000424.v6
47GTEx_Adipose_Visceral_Omentum202223423715323phs000424.v6phs000424.v6
48GTEx_Adrenal_Gland101115923715323phs000424.v6phs000424.v6
49GTEx_Artery_Aorta101124723715323phs000424.v6phs000424.v6
50GTEx_Artery_Coronary101114123715323phs000424.v6phs000424.v6
51GTEx_Artery_Tibial303336023715323phs000424.v6phs000424.v6
52GTEx_Brain_Anterior_cingulate_cortex_BA2410119723715323phs000424.v6phs000424.v6
53GTEx_Brain_Caudate_basal_ganglia101113323715323phs000424.v6phs000424.v6
54GTEx_Brain_Cerebellar_Hemisphere101111423715323phs000424.v6phs000424.v6
55GTEx_Brain_Cerebellum101113823715323phs000424.v6phs000424.v6
56GTEx_Brain_Cortex202212723715323phs000424.v6phs000424.v6
57GTEx_Brain_Frontal_Cortex_BA9101111523715323phs000424.v6phs000424.v6
58GTEx_Brain_Hippocampus101110223715323phs000424.v6phs000424.v6
59GTEx_Brain_Hypothalamus101110323715323phs000424.v6phs000424.v6
60GTEx_Brain_Nucleus_accumbens_basal_ganglia101112423715323phs000424.v6phs000424.v6
61GTEx_Brain_Putamen_basal_ganglia101110323715323phs000424.v6phs000424.v6
62GTEx_Breast_Mammary_Tissue202221923715323phs000424.v6phs000424.v6
63GTEx_Cells_EBV-transformed_lymphocytes101113223715323phs000424.v6phs000424.v6
64GTEx_Cells_Transformed_fibroblasts101130523715323phs000424.v6phs000424.v6
65GTEx_Colon_Sigmoid101117323715323phs000424.v6phs000424.v6
66GTEx_Colon_Transverse101120723715323phs000424.v6phs000424.v6
67GTEx_Esophagus_Gastroesophageal_Junction101117523715323phs000424.v6phs000424.v6
68GTEx_Esophagus_Mucosa101132923715323phs000424.v6phs000424.v6
69GTEx_Esophagus_Muscularis101128123715323phs000424.v6phs000424.v6
70GTEx_Heart_Atrial_Appendage101121723715323phs000424.v6phs000424.v6
71GTEx_Heart_Left_Ventricle101124823715323phs000424.v6phs000424.v6
72GTEx_Liver101113823715323phs000424.v6phs000424.v6
73GTEx_Lung101133823715323phs000424.v6phs000424.v6
74GTEx_Muscle_Skeletal101145423715323phs000424.v6phs000424.v6
75GTEx_Nerve_Tibial101133323715323phs000424.v6phs000424.v6
76GTEx_Ovary101110923715323phs000424.v6phs000424.v6
77GTEx_Pancreas101119423715323phs000424.v6phs000424.v6
78GTEx_Pituitary202212423715323phs000424.v6phs000424.v6
79GTEx_Prostate101112023715323phs000424.v6phs000424.v6
80GTEx_Skin_Not_Sun_Exposed_Suprapubic101126923715323phs000424.v6phs000424.v6
81GTEx_Skin_Sun_Exposed_Lower_leg101138823715323phs000424.v6phs000424.v6
82GTEx_Small_Intestine_Terminal_Ileum101110523715323phs000424.v6phs000424.v6
83GTEx_Spleen101111923715323phs000424.v6phs000424.v6
84GTEx_Stomach101120223715323phs000424.v6phs000424.v6
85GTEx_Testis101119923715323phs000424.v6phs000424.v6
86GTEx_Thyroid101134723715323phs000424.v6phs000424.v6
87GTEx_Uterus10118923715323phs000424.v6phs000424.v6
88GTEx_Vagina10119823715323phs000424.v6phs000424.v6
89GTEx_Whole_Blood101143023715323phs000424.v6phs000424.v6
{ "section": "eqtl", "summary": "1 - 46 of 46"}
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