rs7705526 Rat Genome Database

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Variant: rs7705526 -  Homo sapiens

RGD ID: 13621769
RS ID: rs7705526
ClinVar ID: CV520975
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TERT  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 5 1,285,974
GRCh38 5 1,285,859
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_343t1:c.1574-3235G>T
LRG_343:g.14189G>T
NG_009265.1:g.14189G>T
NC_000005.10:g.1285859C>A
More... 		12/04/2020 intron variant benign Dyskeratosis congenita, autosomal dominant 2; Familial idiopathic pulmonary fibrosis; Fibrocystic pulmonary dysplasia; Fibrosing alveolitis, cryptogenic
Disease Annotations     Click to see Annotation Detail View

GWAS Catalog Data
GWAS Catalog Study Disease Trait Study Size Risk Allele Risk Allele Frequency P Value P Value MLOG SNP Passing QC Reported Odds Ratio or Beta-coefficient Ontology Accession PubMed
GCST005143 Telomere length 5,075 Bangladeshi ancestry individuals A 0.43 0.000006 5.221848749616356 Illumina [~ 6300000] (imputed) 0.09 telomere length (EFO:0004505)
 PMID:29151059
GCST004744 Lung adenocarcinoma 11,273 European ancestry cases, 55,483 European ancestry controls A 0.342168639 4E-35 34.39794000867204 Illumina [10439017] (imputed) 1.2488487 lung adenocarcinoma (EFO:0000571)
 PMID:28604730
GCST010304 Cutaneous malignant melanoma 36,760 European ancestry cases, 375,188 European ancestry controls A 0.3294 2E-14 13.698970004336019 Affymetrix, Illumina [NR] (imputed) 1.0884947 cutaneous melanoma (EFO:0000389)
 PMID:32341527
GCST009856 Leukocyte telomere length 78,592 European ancestry individuals A 0.33 5E-45 44.30102999566398 Affymetrix, Illumina, Perlegen [up to 30071938] (imputed) 0.082 telomere length (EFO:0004505)
 PMID:32109421
GCST90002382 Eosinophil percentage of white cells 408,112 British individuals A 0.325943 8E-10 9.096910013008056 Affymetrix [93095623] (imputed) 0.015807394 eosinophil percentage of leukocytes (EFO:0007991)
 PMID:32888494
GCST004607 Plateletcrit 164,339 European ancestry individuals A 0.3288 2E-41 40.69897000433602 Affymetrix [~ 2500000] (imputed) 0.05365946 platelet crit (EFO:0007985)
 PMID:27863252
GCST004613 Sum neutrophil eosinophil counts 170,384 European ancestry individuals A 0.329 6E-19 18.221848749616356 Affymetrix [~ 2500000] (imputed) 0.03464376 neutrophil count (EFO:0004833)
eosinophil count (EFO:0004842)
 PMID:27863252
GCST90014301 DNA methylation Hannum age acceleration 34,449 European ancestry individuals, 6,148 African American individuals ? NR 4E-9 8.397940008672037 Affymetrix, Illumina [6210504] (imputed) N/A aging (EFO:0022597)
 PMID:34187551
GCST004610 White blood cell count 172,435 European ancestry individuals A 0.329 8E-18 17.096910013008056 Affymetrix [~ 2500000] (imputed) 0.03350265 leukocyte count (EFO:0004308)
 PMID:27863252
GCST004614 Granulocyte count 169,822 European ancestry individuals A 0.329 1E-18 18.0 Affymetrix [~ 2500000] (imputed) 0.03445749 granulocyte count (EFO:0007987)
 PMID:27863252
GCST004146 Chronic lymphocytic leukemia 4,478 European ancestry cases and 13,213 European ancestry controls. A NR 6E-10 9.221848749616356 Affymetrix, Illumina [> 10000000] (imputed) 1.18 chronic lymphocytic leukemia (EFO:0000095)
 PMID:28165464
GCST004626 Myeloid white cell count 169,219 European ancestry individuals A 0.329 6E-19 18.221848749616356 Affymetrix [~ 2500000] (imputed) 0.03473723 myeloid white cell count (EFO:0007988)
 PMID:27863252
GCST004629 Neutrophil count 170,702 European ancestry individuals A 0.3291 8E-20 19.096910013008056 Affymetrix [~ 2500000] (imputed) 0.03545307 neutrophil count (EFO:0004833)
 PMID:27863252
GCST004415 Invasive epithelial ovarian cancer 22,406 European ancestry cases, 40,941 European ancestry controls A 0.332078 7E-10 9.154901959985743 Illumina [11595112] (imputed) 1.0913801 ovarian carcinoma (EFO:0001075)
 PMID:28346442
GCST004480 High-grade serous ovarian cancer 13,037 European ancestry cases, 40,941 European ancestry controls A 0.332078 2E-8 7.698970004336019 Illumina [11595112] (imputed) 1.099452 ovarian serous carcinoma (EFO:1001516)
 PMID:28346442
GCST004478 Serous invasive ovarian cancer 14,049 European ancestry cases, 40,941 European ancestry controls A 0.332078 6E-10 9.221848749616356 Illumina [11595112] (imputed) 1.1067635 ovarian serous carcinoma (EFO:1001516)
 PMID:28346442
GCST004479 Serous borderline ovarian cancer 1,954 European ancestry cases, 40,941 European ancestry controls A 0.332078 6E-19 18.221848749616356 Illumina [11595112] (imputed) 1.3829999 ovarian serous carcinoma (EFO:1001516)
 PMID:28346442
GCST004481 Low-grade serous and serous borderline ovarian cancer 2,966 European ancestry cases, 40,941 European ancestry controls A 0.332078 2E-20 19.69897000433602 Illumina [11595112] (imputed) 1.3236618 ovarian serous carcinoma (EFO:1001516)
 PMID:28346442
GCST004462 Epithelial ovarian cancer 16,924 European ancestry cases, 68,502 European ancestry controls A 0.332078 8E-8 7.096910013008056 Illumina [11595112] (imputed) 1.0766991 ovarian carcinoma (EFO:0001075)
 PMID:28346442
GCST004620 Sum basophil neutrophil counts 170,143 European ancestry individuals A 0.3291 1E-19 19.0 Affymetrix [~ 2500000] (imputed) 0.03527305 neutrophil count (EFO:0004833)
basophil count (EFO:0005090)
 PMID:27863252
GCST90000032 Myeloproliferative neoplasms 1,086 British ancestry cases, 407,155 British ancestry controls, 640 Finnish ancestry cases, 176,259 Finnish ancestry controls A 0.3358 5E-54 53.30102999566398 Affymetrix [6845584] (imputed) 1.58 myeloproliferative disorder (EFO:0004251)
 PMID:33057200
GCST90002322 Mean corpuscular hemoglobin 486,823 European ancestry individuals A 0.326974 2E-103 102.69897000433602 Affymetrix, Illumina [50266654] (imputed) 0.045218 mean corpuscular hemoglobin concentration (EFO:0004528)
 PMID:32888493
GCST90002334 Mean corpuscular volume 544,127 European ancestry individuals A 0.32714 3E-122 121.52287874528034 Affymetrix, Illumina [50615308] (imputed) 0.048592 mean corpuscular volume (EFO:0004526)
 PMID:32888493
GCST90002323 Mean corpuscular hemoglobin 119,629 East Asian ancestry individuals C 0.667675 2E-39 38.69897000433602 Affymetrix, Illumina [16286228] (imputed) 0.063458 mean corpuscular hemoglobin concentration (EFO:0004528)
 PMID:32888493
GCST90002326 Mean corpuscular hemoglobin 630,125 African American or Afro-Caribbean, African ancestry, European ancestry, East Asian ancestry, Hispanic or Latin American and South Asian ancestry individuals A 0.326409 8E-137 136.09691001300806 Affymetrix, Illumina [20825802] (imputed) N/A mean corpuscular hemoglobin concentration (EFO:0004528)
 PMID:32888493
GCST90002338 Mean corpuscular volume 696,882 African American or Afro-Caribbean, African ancestry, European ancestry, East Asian ancestry, Hispanic or Latin American and South Asian ancestry individuals A 0.326136 6E-163 162.22184874961636 Affymetrix, Illumina [24246363] (imputed) N/A mean corpuscular volume (EFO:0004526)
 PMID:32888493
GCST90002390 Mean corpuscular hemoglobin 408,112 British individuals A 0.325859 2E-38 37.69897000433602 Affymetrix [93095623] (imputed) 0.03338528 mean corpuscular hemoglobin (EFO:0004527)
 PMID:32888494
GCST90002351 Neutrophil count 519,288 European ancestry individuals A 0.327035 9E-54 53.045757490560675 Affymetrix, Illumina [50250472] (imputed) 0.033578 neutrophil count (EFO:0004833)
 PMID:32888493
GCST90002355 Neutrophil count 627,215 African American or Afro-Caribbean, African ancestry, European ancestry, East Asian ancestry, Hispanic or Latin American and South Asian ancestry individuals A 0.325839 4E-61 60.39794000867204 Affymetrix, Illumina [23114412] (imputed) N/A neutrophil count (EFO:0004833)
 PMID:32888493
GCST90002357 Platelet count 542,827 European ancestry individuals A 0.327001 5E-88 87.30102999566398 Affymetrix, Illumina [50241410] (imputed) 0.041989 platelet count (EFO:0004309)
 PMID:32888493
GCST90002392 Mean corpuscular volume 408,112 British individuals A 0.325898 5E-45 44.30102999566398 Affymetrix [93095623] (imputed) 0.049392 mean corpuscular volume (EFO:0004526)
 PMID:32888494
GCST90013410 Basal cell carcinoma 17,416 European ancestry cases, 375,455 European ancestry controls A 0.321483 2E-12 11.698970004336019 Affymetrix [7260263] (imputed) 0.082587235 basal cell carcinoma (EFO:0004193)
 PMID:33549134
GCST90002367 Red blood cell count 727,624 African American or Afro-Caribbean, African ancestry, European ancestry, East Asian ancestry, Hispanic or Latin American and South Asian ancestry individuals A 0.326792 5E-108 107.30102999566398 Affymetrix, Illumina [24332387] (imputed) N/A red blood cell density measurement (EFO:0007978)
 PMID:32888493
GCST90002378 White blood cell count 746,667 African American or Afro-Caribbean, African ancestry, European ancestry, East Asian ancestry, Hispanic or Latin American and South Asian ancestry individuals A 0.326633 2E-52 51.69897000433602 Affymetrix, Illumina [24649327] (imputed) N/A myeloid white cell count (EFO:0007988)
 PMID:32888493
GCST90002396 Mean reticulocyte volume 408,112 British individuals A 0.325846 7E-32 31.154901959985743 Affymetrix [93095623] (imputed) 0.030867063 mean reticulocyte volume (EFO:0010701)
 PMID:32888494
GCST90002374 White blood cell count 562,243 European ancestry individuals A 0.327218 8E-43 42.096910013008056 Affymetrix, Illumina [50601830] (imputed) 0.029089 myeloid white cell count (EFO:0007988)
 PMID:32888493
GCST90002363 Red blood cell count 545,203 European ancestry individuals A 0.327194 3E-81 80.52287874528034 Affymetrix, Illumina [50628390] (imputed) 0.040124 red blood cell density measurement (EFO:0007978)
 PMID:32888493
GCST90278198 Leukocyte telomere length 62,271 European ancestry individuals A NR 8E-32 31.096910013008056 Illumina [7407505] 0.0767 telomere length (EFO:0004505)
 PMID:37216007
GCST008834 Non-small cell lung cancer 13,327 Chinese ancestry cases, 13,793 European ancestry cases, 13,328 Chinese ancestry controls, 14,027 European ancestry controls A 0.41 4E-41 40.39794000867204 Illumina [~ 11000000] (imputed) 1.31 non-small cell lung carcinoma (EFO:0003060)
 PMID:31326317
GCST008836 Lung adenocarcinoma 8,762 Chinese ancestry cases, 6,819 European ancestry cases, 13,328 Chinese ancestry controls, 14,027 European ancestry controls A 0.41 3E-52 51.52287874528034 Illumina [~ 11000000] (imputed) 1.4 lung adenocarcinoma (EFO:0000571)
 PMID:31326317
GCST90268497 Mitochondrial DNA copy number (adjusted) 155,998 European ancestry individuals, 2,138 African American or Afro-Caribbean individuals, 381 Hispanic or Latin American individuals, 3,326 Central Asian ancestry individuals, 958 East Asian ancestry individuals, 571 Greater Middle Eastern (Middle Eastern, North African or Persian) individuals C 0.67448 3E-9 8.522878745280337 Affymetrix [24575117] (imputed) 0.022674 mitochondrial DNA measurement (EFO:0006312)
 PMID:37587338
GCST008366 Leukocyte telomere length 16,759 Singaporean Han Chinese ancestry individuals C NR 3E-38 37.52287874528034 Illumina [6407959] (imputed) 0.118 telomere length (EFO:0004505)
 PMID:31171785
GCST008366 Leukocyte telomere length 16,759 Singaporean Han Chinese ancestry individuals C NR 4E-67 66.39794000867204 Illumina [6407959] (imputed) 0.107 telomere length (EFO:0004505)
 PMID:31171785
GCST007068 Mean corpuscular hemoglobin approximately 443,000 European ancestry individuals ? NR 1E-98 98.0 NR [~ 8900000] (imputed) N/A mean corpuscular hemoglobin (EFO:0004527)
 PMID:30595370
GCST90002407 White blood cell count 408,112 British individuals A 0.325949 8E-18 17.096910013008056 Affymetrix [93095623] (imputed) 0.022161977 leukocyte count (EFO:0004308)
 PMID:32888494
GCST90002402 Platelet count 408,112 British individuals A 0.325701 4E-34 33.39794000867204 Affymetrix [93095623] (imputed) 0.03194412 platelet count (EFO:0004309)
 PMID:32888494
GCST90002400 Plateletcrit 408,112 British individuals A 0.325722 2E-58 57.69897000433602 Affymetrix [93095623] (imputed) 0.04245118 platelet crit (EFO:0007985)
 PMID:32888494
GCST90002403 Red blood cell count 408,112 British individuals A 0.325947 1E-32 32.0 Affymetrix [93095623] (imputed) 0.030702785 erythrocyte count (EFO:0004305)
 PMID:32888494
GCST007070 White blood cell count approximately 444,000 European ancestry individuals ? NR 4E-29 28.397940008672037 NR [~ 8900000] (imputed) N/A leukocyte count (EFO:0004308)
 PMID:30595370
GCST007069 Red blood cell count approximately 445,000 European ancestry individuals ? NR 2E-69 68.69897000433602 NR [~ 8900000] (imputed) N/A erythrocyte count (EFO:0004305)
 PMID:30595370
GCST90002399 Neutrophil percentage of white cells 408,112 British individuals A 0.325996 1E-11 11.0 Affymetrix [93095623] (imputed) 0.017452393 neutrophil percentage of leukocytes (EFO:0007990)
 PMID:32888494
GCST90002398 Neutrophil count 408,112 British individuals A 0.325993 4E-22 21.397940008672037 Affymetrix [93095623] (imputed) 0.024958521 neutrophil count (EFO:0004833)
 PMID:32888494
GCST90002397 Mean spheric corpuscular volume 408,112 British individuals A 0.325948 8E-37 36.096910013008056 Affymetrix [93095623] (imputed) 0.0331122 mean corpuscular volume (EFO:0004526)
 PMID:32888494
GCST007073 Hypothyroidism approximately 459,000 European ancestry individuals ? NR 1E-9 9.0 NR [~ 8900000] (imputed) N/A hypothyroidism (EFO:0004705)
 PMID:30595370
GCST90301330 Prostate-specific antigen levels 85,824 European ancestry individuals, 3,509 African American or Afro-Caribbean individuals, 3,337 East Asian ancestry individuals, 3,098 Hispanic or Latin American individuals A 0.331 1E-8 8.0 Illumina [NR] (imputed) 0.023 obsolete_prostate specific antigen measurement (EFO:0004624)
 PMID:37264206
GCST012201 Lung adenocarcinoma 15,581 Chinese or European ancestry cases, 27,355 Chinese or European ancestry controls A NR 4E-65 64.39794000867204 NR [NR] (imputed) 1.31 lung adenocarcinoma (EFO:0000571)
 PMID:32889700
GCST012199 Non-small cell lung cancer 27,120 Chinese or European ancestry cases, 27,355 Chinese or European ancestry controls A NR 1E-42 42.0 NR [NR] (imputed) 1.2 non-small cell lung carcinoma (EFO:0003060)
 PMID:32889700
GCST90089245 Serum levels of protein THPO 5,364 Icelandic ancestry individuals A 0.3563 5E-12 11.301029995663981 Illumina [7506463] (imputed) 0.136533 blood protein measurement (EFO:0007937)
 PMID:35078996
GCST90018749 Platelet count 148,623 East Asian ancestry individuals A 0.354183 2E-41 40.69897000433602 Illumina [13478928] (imputed) 0.048757 platelet count (EFO:0004309)
 PMID:34594039
GCST90018746 Mean corpuscular volume 129,832 East Asian ancestry individuals A 0.35357 2E-58 57.69897000433602 Illumina [13476266] (imputed) 0.0632816 mean corpuscular volume (EFO:0004526)
 PMID:34594039
GCST90102460 Peripheral blood CD34+ cell levels 10,949 Swedish ancestry individuals A 0.34 2E-9 8.698970004336019 Illumina [18000000] (imputed) 0.081 blood protein measurement (EFO:0007937)
 PMID:35007327
GCST90018744 Mean corpuscular hemoglobin 128,028 East Asian ancestry individuals A 0.353264 7E-49 48.15490195998574 Illumina [13476299] (imputed) 0.0582783 mean corpuscular hemoglobin (EFO:0004527)
 PMID:34594039
GCST90056174 Mean corpuscular volume 362,595 British ancestry individuals C 0.674 2E-57 56.69897000433602 Affymetrix [NR] (imputed) 0.19 mean corpuscular volume (EFO:0004526)
 PMID:34104963
GCST90103979 Telomere length 51,654 European ancestry individuals, 29,260 African ancestry individuals, 18,091 Hispanic or Latin American individuals, 5,683 Asian ancestry individuals, 4,503 individuals ? NR 2E-92 91.69897000433602 NR [163000000] N/A telomere length (EFO:0004505)
 PMID:35530816
GCST004747 Lung cancer in never smokers 2,355 European ancestry cases, 7,504 European ancestry controls A 0.346810832 7E-8 7.154901959985743 Illumina [10439017] (imputed) 1.2275395 lung carcinoma (EFO:0001071)
 PMID:28604730
GCST90056183 Platelet count 235,256 European ancestry individuals C 0.675 1E-32 32.0 Affymetrix [10369434] (imputed) N/A platelet count (EFO:0004309)
 PMID:34469753
GCST90026371 Mitochondrial DNA copy number 395,718 British, Irish, Other White, South Asian, African ancestry individuals A 0.321486 6E-15 14.221848749616356 Affymetrix [23037915] (imputed) 0.0178 mitochondrial DNA measurement (EFO:0006312)
 PMID:35023831
GCST90056178 Neutrophil count 234,802 European ancestry individuals C 0.675 1E-12 12.0 Affymetrix [10369434] (imputed) N/A neutrophil count (EFO:0004833)
 PMID:34469753
GCST90018966 Mean corpuscular volume 350,473 European ancestry individuals, 129,832 East Asian ancestry individuals A NR 3E-105 104.52287874528034 Affymetrix, Illumina [20535844] (imputed) 0.0467 mean corpuscular volume (EFO:0004526)
 PMID:34594039
GCST90018964 Mean corpuscular hemoglobin 350,472 European ancestry individuals, 128,028 East Asian ancestry individuals A NR 2E-95 94.69897000433602 Affymetrix, Illumina [20535878] (imputed) 0.0445 mean corpuscular hemoglobin (EFO:0004527)
 PMID:34594039
GCST90018968 Neutrophil count 349,856 European ancestry individuals, 82,810 East Asian ancestry individuals A NR 4E-45 44.39794000867204 Affymetrix, Illumina [20526770] (imputed) 0.0323 neutrophil count (EFO:0004833)
 PMID:34594039
GCST90018969 Platelet count 350,474 European ancestry individuals, 148,623 East Asian ancestry individuals A NR 1E-90 90.0 Affymetrix, Illumina [20538505] (imputed) 0.0415 platelet count (EFO:0004309)
 PMID:34594039

Variant Details
Variant Transcripts
Gene Symbol:TERT
Accession:NM_001193376
Location:INTRON

Gene Symbol:TERT
Accession:NM_198253
Location:INTRON

Gene Symbol:TERT
Accession:NR_149163
Location:INTRON;NON-CODING

Gene Symbol:TERT
Accession:NR_149162
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001513602 CLINVAR
dbSNP (RS) rs7705526 CLINVAR
GWAS Catalog GCST004146 GWAS Catalog
  GCST004415 GWAS Catalog
  GCST004462 GWAS Catalog
  GCST004478 GWAS Catalog
  GCST004479 GWAS Catalog
  GCST004480 GWAS Catalog
  GCST004481 GWAS Catalog
  GCST004607 GWAS Catalog
  GCST004610 GWAS Catalog
  GCST004613 GWAS Catalog
  GCST004614 GWAS Catalog
  GCST004620 GWAS Catalog
  GCST004626 GWAS Catalog
  GCST004629 GWAS Catalog
  GCST004744 GWAS Catalog
  GCST004747 GWAS Catalog
  GCST005143 GWAS Catalog
  GCST008834 GWAS Catalog
  GCST008836 GWAS Catalog
  GCST009856 GWAS Catalog
  GCST010304 GWAS Catalog
  GCST90000032 GWAS Catalog
  GCST90002322 GWAS Catalog
  GCST90002326 GWAS Catalog
  GCST90002334 GWAS Catalog
  GCST90002338 GWAS Catalog
  GCST90002351 GWAS Catalog
  GCST90002355 GWAS Catalog
  GCST90002357 GWAS Catalog
  GCST90002363 GWAS Catalog
  GCST90002367 GWAS Catalog
  GCST90002374 GWAS Catalog
  GCST90002378 GWAS Catalog
  GCST90002382 GWAS Catalog
  GCST90002390 GWAS Catalog
  GCST90002392 GWAS Catalog
  GCST90002396 GWAS Catalog
  GCST90002397 GWAS Catalog
  GCST90002398 GWAS Catalog
  GCST90002399 GWAS Catalog
  GCST90002400 GWAS Catalog
  GCST90002402 GWAS Catalog
  GCST90002403 GWAS Catalog
  GCST90002407 GWAS Catalog
  GCST90013410 GWAS Catalog
MedGen C5561926 CLINVAR
NCBI Gene TERT CLINVAR
OMIM 178500 CLINVAR
  187270 CLINVAR
  613989 CLINVAR