dbSNP Short Genetic Variations
Welcome to the Reference SNP (rs) Report
All alleles are reported in the Forward orientation. Click on the Variant Details tab for details on Genomic Placement, Gene, and Amino Acid changes. HGVS names are in the HGVS tab.
Reference SNP (rs) Report
This page reports data for a single dbSNP Reference SNP variation (RefSNP or rs) from the new redesigned dbSNP build.
Top of the page reports a concise summary for the rs, with more specific details included in the corresponding tabs below.
All alleles are reported in the Forward orientation. Use the Genomic View to inspect the nucleotides flanking the variant, and its neighbors.
For more information see Help documentation.
rs7136446
Current Build 156
Released September 21, 2022
- Organism
- Homo sapiens
- Position
-
chr12:102444737 (GRCh38.p14) Help
The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See here for details.
- Alleles
- C>A / C>T
- Variation Type
- SNV Single Nucleotide Variation
- Frequency
-
C=0.331697 (87797/264690, TOPMED)C=0.398048 (76305/191698, ALFA)C=0.337754 (47247/139886, GnomAD) (+ 20 more)
- Clinical Significance
- Not Reported in ClinVar
- Gene : Consequence
-
IGF1 : Intron VariantLINC02456 : Intron Variant
- Publications
- 20 citations
- Genomic View
- See rs on genome
ALFA Allele Frequency
The ALFA project provide aggregate allele frequency from dbGaP. More information is available on the project page including descriptions, data access, and terms of use.
Release Version: 20230706150541
| Population | Group | Sample Size | Ref Allele | Alt Allele |
|---|---|---|---|---|
| Total | Global | 191698 | C=0.398048 | T=0.601952 |
| European | Sub | 164052 | C=0.415320 | T=0.584680 |
| African | Sub | 7464 | C=0.2590 | T=0.7410 |
| African Others | Sub | 260 | C=0.273 | T=0.727 |
| African American | Sub | 7204 | C=0.2585 | T=0.7415 |
| Asian | Sub | 726 | C=0.212 | T=0.788 |
| East Asian | Sub | 582 | C=0.184 | T=0.816 |
| Other Asian | Sub | 144 | C=0.326 | T=0.674 |
| Latin American 1 | Sub | 826 | C=0.358 | T=0.642 |
| Latin American 2 | Sub | 6836 | C=0.2241 | T=0.7759 |
| South Asian | Sub | 5050 | C=0.3491 | T=0.6509 |
| Other | Sub | 6744 | C=0.3697 | T=0.6303 |
Frequency tab displays a table of the reference and alternate allele frequencies reported by various studies and populations. Table lines, where Population="Global" refer to the entire study population, whereas lines, where Group="Sub", refer to a study-specific population subgroupings (i.e. AFR, CAU, etc.), if available. Frequency for the alternate allele (Alt Allele) is a ratio of samples observed-to-total, where the numerator (observed samples) is the number of chromosomes in the study with the minor allele present (found in "Sample size", where Group="Sub"), and the denominator (total samples) is the total number of all chromosomes in the study for the variant (found in "Sample size", where Group="Study-wide" and Population="Global").
Download| Study | Population | Group | Sample Size | Ref Allele | Alt Allele |
|---|---|---|---|---|---|
| TopMed | Global | Study-wide | 264690 | C=0.331697 | T=0.668303 |
| Allele Frequency Aggregator | Total | Global | 191698 | C=0.398048 | T=0.601952 |
| Allele Frequency Aggregator | European | Sub | 164052 | C=0.415320 | T=0.584680 |
| Allele Frequency Aggregator | African | Sub | 7464 | C=0.2590 | T=0.7410 |
| Allele Frequency Aggregator | Latin American 2 | Sub | 6836 | C=0.2241 | T=0.7759 |
| Allele Frequency Aggregator | Other | Sub | 6744 | C=0.3697 | T=0.6303 |
| Allele Frequency Aggregator | South Asian | Sub | 5050 | C=0.3491 | T=0.6509 |
| Allele Frequency Aggregator | Latin American 1 | Sub | 826 | C=0.358 | T=0.642 |
| Allele Frequency Aggregator | Asian | Sub | 726 | C=0.212 | T=0.788 |
| gnomAD - Genomes | Global | Study-wide | 139886 | C=0.337754 | T=0.662246 |
| gnomAD - Genomes | European | Sub | 75722 | C=0.39300 | T=0.60700 |
| gnomAD - Genomes | African | Sub | 41940 | C=0.26497 | T=0.73503 |
| gnomAD - Genomes | American | Sub | 13632 | C=0.28147 | T=0.71853 |
| gnomAD - Genomes | Ashkenazi Jewish | Sub | 3310 | C=0.3870 | T=0.6130 |
| gnomAD - Genomes | East Asian | Sub | 3130 | C=0.1735 | T=0.8265 |
| gnomAD - Genomes | Other | Sub | 2152 | C=0.3318 | T=0.6682 |
| 14KJPN | JAPANESE | Study-wide | 28258 | C=0.21314 | T=0.78686 |
| 8.3KJPN | JAPANESE | Study-wide | 16760 | C=0.21289 | T=0.78711 |
| 1000Genomes_30x | Global | Study-wide | 6404 | C=0.2711 | T=0.7289 |
| 1000Genomes_30x | African | Sub | 1786 | C=0.2559 | T=0.7441 |
| 1000Genomes_30x | Europe | Sub | 1266 | C=0.4036 | T=0.5964 |
| 1000Genomes_30x | South Asian | Sub | 1202 | C=0.2937 | T=0.7063 |
| 1000Genomes_30x | East Asian | Sub | 1170 | C=0.1735 | T=0.8265 |
| 1000Genomes_30x | American | Sub | 980 | C=0.216 | T=0.784 |
| 1000Genomes | Global | Study-wide | 5008 | C=0.2760 | T=0.7240 |
| 1000Genomes | African | Sub | 1322 | C=0.2663 | T=0.7337 |
| 1000Genomes | East Asian | Sub | 1008 | C=0.1766 | T=0.8234 |
| 1000Genomes | Europe | Sub | 1006 | C=0.3996 | T=0.6004 |
| 1000Genomes | South Asian | Sub | 978 | C=0.297 | T=0.703 |
| 1000Genomes | American | Sub | 694 | C=0.231 | T=0.769 |
| Genetic variation in the Estonian population | Estonian | Study-wide | 4480 | C=0.3632 | T=0.6368 |
| The Avon Longitudinal Study of Parents and Children | PARENT AND CHILD COHORT | Study-wide | 3854 | C=0.4100 | T=0.5900 |
| UK 10K study - Twins | TWIN COHORT | Study-wide | 3708 | C=0.4258 | T=0.5742 |
| KOREAN population from KRGDB | KOREAN | Study-wide | 2930 | C=0.1635 | A=0.0000, T=0.8365 |
| HGDP-CEPH-db Supplement 1 | Global | Study-wide | 2084 | C=0.2630 | T=0.7370 |
| HGDP-CEPH-db Supplement 1 | Est_Asia | Sub | 470 | C=0.153 | T=0.847 |
| HGDP-CEPH-db Supplement 1 | Central_South_Asia | Sub | 414 | C=0.360 | T=0.640 |
| HGDP-CEPH-db Supplement 1 | Middle_Est | Sub | 350 | C=0.369 | T=0.631 |
| HGDP-CEPH-db Supplement 1 | Europe | Sub | 320 | C=0.422 | T=0.578 |
| HGDP-CEPH-db Supplement 1 | Africa | Sub | 242 | C=0.153 | T=0.847 |
| HGDP-CEPH-db Supplement 1 | America | Sub | 216 | C=0.028 | T=0.972 |
| HGDP-CEPH-db Supplement 1 | Oceania | Sub | 72 | C=0.28 | T=0.72 |
| HapMap | Global | Study-wide | 1790 | C=0.2899 | T=0.7101 |
| HapMap | African | Sub | 690 | C=0.246 | T=0.754 |
| HapMap | American | Sub | 670 | C=0.333 | T=0.667 |
| HapMap | Asian | Sub | 254 | C=0.201 | T=0.799 |
| HapMap | Europe | Sub | 176 | C=0.426 | T=0.574 |
| Genome-wide autozygosity in Daghestan | Global | Study-wide | 1136 | C=0.4683 | T=0.5317 |
| Genome-wide autozygosity in Daghestan | Daghestan | Sub | 628 | C=0.529 | T=0.471 |
| Genome-wide autozygosity in Daghestan | Near_East | Sub | 144 | C=0.431 | T=0.569 |
| Genome-wide autozygosity in Daghestan | Central Asia | Sub | 122 | C=0.262 | T=0.738 |
| Genome-wide autozygosity in Daghestan | Europe | Sub | 108 | C=0.463 | T=0.537 |
| Genome-wide autozygosity in Daghestan | South Asian | Sub | 98 | C=0.38 | T=0.62 |
| Genome-wide autozygosity in Daghestan | Caucasus | Sub | 36 | C=0.53 | T=0.47 |
| Genome of the Netherlands Release 5 | Genome of the Netherlands | Study-wide | 998 | C=0.384 | T=0.616 |
| CNV burdens in cranial meningiomas | Global | Study-wide | 792 | C=0.178 | T=0.822 |
| CNV burdens in cranial meningiomas | CRM | Sub | 792 | C=0.178 | T=0.822 |
| Northern Sweden | ACPOP | Study-wide | 600 | C=0.353 | T=0.647 |
| SGDP_PRJ | Global | Study-wide | 494 | C=0.194 | T=0.806 |
| Qatari | Global | Study-wide | 216 | C=0.370 | T=0.630 |
| A Vietnamese Genetic Variation Database | Global | Study-wide | 214 | C=0.168 | T=0.832 |
| Ancient Sardinia genome-wide 1240k capture data generation and analysis | Global | Study-wide | 74 | C=0.57 | T=0.43 |
| Siberian | Global | Study-wide | 56 | C=0.20 | T=0.80 |
| The Danish reference pan genome | Danish | Study-wide | 40 | C=0.28 | T=0.72 |
Help
Variant Details tab shows known variant placements on genomic sequences: chromosomes (NC_), RefSeqGene, pseudogenes or genomic regions (NG_), and in a separate table: on transcripts (NM_) and protein sequences (NP_). The corresponding transcript and protein locations are listed in adjacent lines, along with molecular consequences from Sequence Ontology. When no protein placement is available, only the transcript is listed. Column "Codon[Amino acid]" shows the actual base change in the format of "Reference > Alternate" allele, including the nucleotide codon change in transcripts, and the amino acid change in proteins, respectively, allowing for known ribosomal slippage sites. To view nucleotides adjacent to the variant use the Genomic View at the bottom of the page - zoom into the sequence until the nucleotides around the variant become visible.
Genomic Placements
| Sequence name | Change |
|---|---|
| GRCh38.p14 chr 12 | NC_000012.12:g.102444737C>A |
| GRCh38.p14 chr 12 | NC_000012.12:g.102444737C>T |
| GRCh37.p13 chr 12 | NC_000012.11:g.102838515C>A |
| GRCh37.p13 chr 12 | NC_000012.11:g.102838515C>T |
| IGF1 RefSeqGene | NG_011713.1:g.40864G>T |
| IGF1 RefSeqGene | NG_011713.1:g.40864G>A |
Gene: IGF1, insulin like growth factor 1
(minus strand)
| Molecule type | Change | Amino acid[Codon] | SO Term |
|---|---|---|---|
| IGF1 transcript variant 4 | NM_000618.5:c.221-25047G>T | N/A | Intron Variant |
| IGF1 transcript variant 1 |
NM_001111283.3:c.221-2504… NM_001111283.3:c.221-25047G>T |
N/A | Intron Variant |
| IGF1 transcript variant 2 |
NM_001111284.2:c.173-2504… NM_001111284.2:c.173-25047G>T |
N/A | Intron Variant |
| IGF1 transcript variant 3 |
NM_001111285.3:c.221-2504… NM_001111285.3:c.221-25047G>T |
N/A | Intron Variant |
| IGF1 transcript variant X1 |
XM_017019259.2:c.272-2504… XM_017019259.2:c.272-25047G>T |
N/A | Intron Variant |
| IGF1 transcript variant X2 |
XM_017019261.2:c.173-2504… XM_017019261.2:c.173-25047G>T |
N/A | Intron Variant |
| IGF1 transcript variant X2 |
XM_017019262.3:c.272-2504… XM_017019262.3:c.272-25047G>T |
N/A | Intron Variant |
| IGF1 transcript variant X3 |
XM_017019263.3:c.272-2504… XM_017019263.3:c.272-25047G>T |
N/A | Intron Variant |
Gene: LINC02456, uncharacterized LINC02456
(plus strand)
| Molecule type | Change | Amino acid[Codon] | SO Term |
|---|---|---|---|
| LINC02456 transcript | XR_007063427.1:n. | N/A | Intron Variant |
Help
Clinical Significance tab shows a list of clinical significance entries from ClinVar associated with the variation, per allele. Click on the RCV accession (i.e. RCV000001615.2) or Allele ID (i.e. 12274) to access full ClinVar report.
Not Reported in ClinVar
Help
Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. HGVS name is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".
| Placement | C= | A | T |
|---|---|---|---|
| GRCh38.p14 chr 12 | NC_000012.12:g.102444737= | NC_000012.12:g.102444737C>A | NC_000012.12:g.102444737C>T |
| GRCh37.p13 chr 12 | NC_000012.11:g.102838515= | NC_000012.11:g.102838515C>A | NC_000012.11:g.102838515C>T |
| IGF1 RefSeqGene | NG_011713.1:g.40864= | NG_011713.1:g.40864G>T | NG_011713.1:g.40864G>A |
| IGF1 transcript variant 4 | NM_000618.3:c.221-25047= | NM_000618.3:c.221-25047G>T | NM_000618.3:c.221-25047G>A |
| IGF1 transcript variant 4 | NM_000618.5:c.221-25047= | NM_000618.5:c.221-25047G>T | NM_000618.5:c.221-25047G>A |
| IGF1 transcript variant 1 | NM_001111283.1:c.221-25047= | NM_001111283.1:c.221-25047G>T | NM_001111283.1:c.221-25047G>A |
| IGF1 transcript variant 1 | NM_001111283.3:c.221-25047= | NM_001111283.3:c.221-25047G>T | NM_001111283.3:c.221-25047G>A |
| IGF1 transcript variant 2 | NM_001111284.1:c.173-25047= | NM_001111284.1:c.173-25047G>T | NM_001111284.1:c.173-25047G>A |
| IGF1 transcript variant 2 | NM_001111284.2:c.173-25047= | NM_001111284.2:c.173-25047G>T | NM_001111284.2:c.173-25047G>A |
| IGF1 transcript variant 3 | NM_001111285.1:c.221-25047= | NM_001111285.1:c.221-25047G>T | NM_001111285.1:c.221-25047G>A |
| IGF1 transcript variant 3 | NM_001111285.3:c.221-25047= | NM_001111285.3:c.221-25047G>T | NM_001111285.3:c.221-25047G>A |
| IGF1 transcript variant X1 | XM_005268835.1:c.173-25047= | XM_005268835.1:c.173-25047G>T | XM_005268835.1:c.173-25047G>A |
| IGF1 transcript variant X2 | XM_005268836.1:c.152-25047= | XM_005268836.1:c.152-25047G>T | XM_005268836.1:c.152-25047G>A |
| IGF1 transcript variant X1 | XM_017019259.2:c.272-25047= | XM_017019259.2:c.272-25047G>T | XM_017019259.2:c.272-25047G>A |
| IGF1 transcript variant X2 | XM_017019261.2:c.173-25047= | XM_017019261.2:c.173-25047G>T | XM_017019261.2:c.173-25047G>A |
| IGF1 transcript variant X2 | XM_017019262.3:c.272-25047= | XM_017019262.3:c.272-25047G>T | XM_017019262.3:c.272-25047G>A |
| IGF1 transcript variant X3 | XM_017019263.3:c.272-25047= | XM_017019263.3:c.272-25047G>T | XM_017019263.3:c.272-25047G>A |
Help
Submissions tab displays variations originally submitted to dbSNP, now supporting this RefSNP cluster (rs). We display Submitter handle, Submission identifier, Date and Build number, when the submission appeared for the first time. Direct submissions to dbSNP have Submission ID in the form of an ss-prefixed number (ss#). Other supporting variations are listed in the table without ss#.
132 SubSNP,
23 Frequency
submissions
| No | Submitter | Submission ID | Date (Build) |
|---|---|---|---|
| 1 | BCM_SSAHASNP | ss10714953 | Jul 11, 2003 (116) |
| 2 | SC_SNP | ss16297188 | Feb 27, 2004 (120) |
| 3 | PERLEGEN | ss24398057 | Sep 20, 2004 (126) |
| 4 | ABI | ss38967125 | Mar 11, 2006 (126) |
| 5 | ILLUMINA | ss66546588 | Dec 02, 2006 (127) |
| 6 | ILLUMINA | ss67545150 | Dec 02, 2006 (127) |
| 7 | ILLUMINA | ss67918614 | Dec 02, 2006 (127) |
| 8 | PERLEGEN | ss69118887 | May 18, 2007 (127) |
| 9 | ILLUMINA | ss70910595 | May 26, 2008 (130) |
| 10 | ILLUMINA | ss71508181 | May 18, 2007 (127) |
| 11 | ILLUMINA | ss75746386 | Dec 06, 2007 (129) |
| 12 | ILLUMINA | ss79246940 | Dec 15, 2007 (130) |
| 13 | KRIBB_YJKIM | ss84621969 | Dec 15, 2007 (130) |
| 14 | BCMHGSC_JDW | ss89356979 | Mar 24, 2008 (129) |
| 15 | HUMANGENOME_JCVI | ss97336083 | Feb 06, 2009 (130) |
| 16 | BGI | ss105116332 | Dec 01, 2009 (131) |
| 17 | 1000GENOMES | ss112398958 | Jan 25, 2009 (130) |
| 18 | 1000GENOMES | ss114027520 | Jan 25, 2009 (130) |
| 19 | ILLUMINA-UK | ss119685072 | Dec 01, 2009 (131) |
| 20 | ILLUMINA | ss122696589 | Dec 01, 2009 (131) |
| 21 | ENSEMBL | ss133336018 | Dec 01, 2009 (131) |
| 22 | ILLUMINA | ss154406838 | Dec 01, 2009 (131) |
| 23 | GMI | ss157852091 | Dec 01, 2009 (131) |
| 24 | ILLUMINA | ss159581977 | Dec 01, 2009 (131) |
| 25 | ILLUMINA | ss160851300 | Dec 01, 2009 (131) |
| 26 | COMPLETE_GENOMICS | ss170789191 | Jul 04, 2010 (132) |
| 27 | ILLUMINA | ss172249705 | Jul 04, 2010 (132) |
| 28 | ILLUMINA | ss174256346 | Jul 04, 2010 (132) |
| 29 | COMPLETE_GENOMICS | ss175254981 | Jul 04, 2010 (132) |
| 30 | BUSHMAN | ss198620947 | Jul 04, 2010 (132) |
| 31 | BCM-HGSC-SUB | ss208115307 | Jul 04, 2010 (132) |
| 32 | 1000GENOMES | ss225930976 | Jul 14, 2010 (132) |
| 33 | 1000GENOMES | ss236066786 | Jul 15, 2010 (132) |
| 34 | 1000GENOMES | ss242598047 | Jul 15, 2010 (132) |
| 35 | ILLUMINA | ss244308113 | Jul 04, 2010 (132) |
| 36 | GMI | ss281527217 | May 04, 2012 (137) |
| 37 | PJP | ss291329471 | May 09, 2011 (134) |
| 38 | ILLUMINA | ss410796895 | Sep 17, 2011 (135) |
| 39 | ILLUMINA | ss481477059 | May 04, 2012 (137) |
| 40 | ILLUMINA | ss481505318 | May 04, 2012 (137) |
| 41 | ILLUMINA | ss482483431 | Sep 08, 2015 (146) |
| 42 | ILLUMINA | ss485533753 | May 04, 2012 (137) |
| 43 | ILLUMINA | ss537439462 | Sep 08, 2015 (146) |
| 44 | TISHKOFF | ss563368998 | Apr 25, 2013 (138) |
| 45 | SSMP | ss658950814 | Apr 25, 2013 (138) |
| 46 | ILLUMINA | ss778593649 | Sep 08, 2015 (146) |
| 47 | ILLUMINA | ss783212393 | Sep 08, 2015 (146) |
| 48 | ILLUMINA | ss784167077 | Sep 08, 2015 (146) |
| 49 | ILLUMINA | ss825577458 | Apr 01, 2015 (144) |
| 50 | ILLUMINA | ss832472531 | Sep 08, 2015 (146) |
| 51 | ILLUMINA | ss833093028 | Jul 13, 2019 (153) |
| 52 | ILLUMINA | ss834050875 | Sep 08, 2015 (146) |
| 53 | EVA-GONL | ss989898356 | Aug 21, 2014 (142) |
| 54 | JMKIDD_LAB | ss1078727380 | Aug 21, 2014 (142) |
| 55 | 1000GENOMES | ss1346406350 | Aug 21, 2014 (142) |
| 56 | HAMMER_LAB | ss1397643949 | Sep 08, 2015 (146) |
| 57 | DDI | ss1427036821 | Apr 01, 2015 (144) |
| 58 | EVA_GENOME_DK | ss1576488212 | Apr 01, 2015 (144) |
| 59 | EVA_UK10K_ALSPAC | ss1629318425 | Apr 01, 2015 (144) |
| 60 | EVA_DECODE | ss1642001173 | Apr 01, 2015 (144) |
| 61 | EVA_UK10K_TWINSUK | ss1672312458 | Apr 01, 2015 (144) |
| 62 | EVA_SVP | ss1713353167 | Apr 01, 2015 (144) |
| 63 | ILLUMINA | ss1752042770 | Sep 08, 2015 (146) |
| 64 | HAMMER_LAB | ss1807393640 | Sep 08, 2015 (146) |
| 65 | WEILL_CORNELL_DGM | ss1933252395 | Feb 12, 2016 (147) |
| 66 | ILLUMINA | ss1959461044 | Feb 12, 2016 (147) |
| 67 | GENOMED | ss1967668819 | Jul 19, 2016 (147) |
| 68 | JJLAB | ss2027382647 | Sep 14, 2016 (149) |
| 69 | USC_VALOUEV | ss2155728912 | Dec 20, 2016 (150) |
| 70 | HUMAN_LONGEVITY | ss2192700518 | Dec 20, 2016 (150) |
| 71 | SYSTEMSBIOZJU | ss2628171930 | Nov 08, 2017 (151) |
| 72 | ILLUMINA | ss2633000906 | Nov 08, 2017 (151) |
| 73 | ILLUMINA | ss2633000907 | Nov 08, 2017 (151) |
| 74 | ILLUMINA | ss2635040109 | Nov 08, 2017 (151) |
| 75 | GRF | ss2700085924 | Nov 08, 2017 (151) |
| 76 | GNOMAD | ss2914520882 | Nov 08, 2017 (151) |
| 77 | SWEGEN | ss3010253851 | Nov 08, 2017 (151) |
| 78 | ILLUMINA | ss3021459985 | Nov 08, 2017 (151) |
| 79 | BIOINF_KMB_FNS_UNIBA | ss3027501481 | Nov 08, 2017 (151) |
| 80 | CSHL | ss3350222928 | Nov 08, 2017 (151) |
| 81 | ILLUMINA | ss3626954206 | Oct 12, 2018 (152) |
| 82 | ILLUMINA | ss3631007780 | Oct 12, 2018 (152) |
| 83 | ILLUMINA | ss3633032079 | Oct 12, 2018 (152) |
| 84 | ILLUMINA | ss3633733492 | Oct 12, 2018 (152) |
| 85 | ILLUMINA | ss3634520579 | Oct 12, 2018 (152) |
| 86 | ILLUMINA | ss3635424005 | Oct 12, 2018 (152) |
| 87 | ILLUMINA | ss3636206635 | Oct 12, 2018 (152) |
| 88 | ILLUMINA | ss3637175003 | Oct 12, 2018 (152) |
| 89 | ILLUMINA | ss3637982896 | Oct 12, 2018 (152) |
| 90 | ILLUMINA | ss3639004770 | Oct 12, 2018 (152) |
| 91 | ILLUMINA | ss3639505167 | Oct 12, 2018 (152) |
| 92 | ILLUMINA | ss3640227912 | Oct 12, 2018 (152) |
| 93 | ILLUMINA | ss3642974790 | Oct 12, 2018 (152) |
| 94 | URBANLAB | ss3649911591 | Oct 12, 2018 (152) |
| 95 | ILLUMINA | ss3651841538 | Oct 12, 2018 (152) |
| 96 | EGCUT_WGS | ss3677549553 | Jul 13, 2019 (153) |
| 97 | EVA_DECODE | ss3694348760 | Jul 13, 2019 (153) |
| 98 | ILLUMINA | ss3725351730 | Jul 13, 2019 (153) |
| 99 | ACPOP | ss3739331126 | Jul 13, 2019 (153) |
| 100 | ILLUMINA | ss3744821375 | Jul 13, 2019 (153) |
| 101 | EVA | ss3750894784 | Jul 13, 2019 (153) |
| 102 | ILLUMINA | ss3772320626 | Jul 13, 2019 (153) |
| 103 | PACBIO | ss3787319804 | Jul 13, 2019 (153) |
| 104 | PACBIO | ss3792405256 | Jul 13, 2019 (153) |
| 105 | PACBIO | ss3797288309 | Jul 13, 2019 (153) |
| 106 | KHV_HUMAN_GENOMES | ss3816228389 | Jul 13, 2019 (153) |
| 107 | EVA | ss3833297455 | Apr 27, 2020 (154) |
| 108 | EVA | ss3840221102 | Apr 27, 2020 (154) |
| 109 | EVA | ss3845709342 | Apr 27, 2020 (154) |
| 110 | HGDP | ss3847462190 | Apr 27, 2020 (154) |
| 111 | SGDP_PRJ | ss3878992691 | Apr 27, 2020 (154) |
| 112 | KRGDB | ss3927718019 | Apr 27, 2020 (154) |
| 113 | EVA | ss3984672215 | Apr 26, 2021 (155) |
| 114 | EVA | ss3985610706 | Apr 26, 2021 (155) |
| 115 | EVA | ss4017607048 | Apr 26, 2021 (155) |
| 116 | TOPMED | ss4930748675 | Apr 26, 2021 (155) |
| 117 | TOMMO_GENOMICS | ss5207902135 | Apr 26, 2021 (155) |
| 118 | 1000G_HIGH_COVERAGE | ss5292030434 | Oct 16, 2022 (156) |
| 119 | EVA | ss5315644794 | Oct 16, 2022 (156) |
| 120 | EVA | ss5407855649 | Oct 16, 2022 (156) |
| 121 | HUGCELL_USP | ss5486653221 | Oct 16, 2022 (156) |
| 122 | 1000G_HIGH_COVERAGE | ss5590159429 | Oct 16, 2022 (156) |
| 123 | SANFORD_IMAGENETICS | ss5624310542 | Oct 16, 2022 (156) |
| 124 | SANFORD_IMAGENETICS | ss5653844958 | Oct 16, 2022 (156) |
| 125 | TOMMO_GENOMICS | ss5758146100 | Oct 16, 2022 (156) |
| 126 | YY_MCH | ss5813596009 | Oct 16, 2022 (156) |
| 127 | EVA | ss5838434367 | Oct 16, 2022 (156) |
| 128 | EVA | ss5847414782 | Oct 16, 2022 (156) |
| 129 | EVA | ss5850522907 | Oct 16, 2022 (156) |
| 130 | EVA | ss5905785110 | Oct 16, 2022 (156) |
| 131 | EVA | ss5945241528 | Oct 16, 2022 (156) |
| 132 | EVA | ss5979401963 | Oct 16, 2022 (156) |
| 133 | 1000Genomes | NC_000012.11 - 102838515 | Oct 12, 2018 (152) |
| 134 | 1000Genomes_30x | NC_000012.12 - 102444737 | Oct 16, 2022 (156) |
| 135 | The Avon Longitudinal Study of Parents and Children | NC_000012.11 - 102838515 | Oct 12, 2018 (152) |
| 136 | Genome-wide autozygosity in Daghestan | NC_000012.10 - 101362645 | Apr 27, 2020 (154) |
| 137 | Genetic variation in the Estonian population | NC_000012.11 - 102838515 | Oct 12, 2018 (152) |
| 138 | The Danish reference pan genome | NC_000012.11 - 102838515 | Apr 27, 2020 (154) |
| 139 | gnomAD - Genomes | NC_000012.12 - 102444737 | Apr 26, 2021 (155) |
| 140 | Genome of the Netherlands Release 5 | NC_000012.11 - 102838515 | Apr 27, 2020 (154) |
| 141 | HGDP-CEPH-db Supplement 1 | NC_000012.10 - 101362645 | Apr 27, 2020 (154) |
| 142 | HapMap | NC_000012.12 - 102444737 | Apr 27, 2020 (154) |
| 143 | KOREAN population from KRGDB | NC_000012.11 - 102838515 | Apr 27, 2020 (154) |
| 144 | Northern Sweden | NC_000012.11 - 102838515 | Jul 13, 2019 (153) |
| 145 | Ancient Sardinia genome-wide 1240k capture data generation and analysis | NC_000012.11 - 102838515 | Apr 26, 2021 (155) |
| 146 | CNV burdens in cranial meningiomas | NC_000012.11 - 102838515 | Apr 26, 2021 (155) |
| 147 | Qatari | NC_000012.11 - 102838515 | Apr 27, 2020 (154) |
| 148 | SGDP_PRJ | NC_000012.11 - 102838515 | Apr 27, 2020 (154) |
| 149 | Siberian | NC_000012.11 - 102838515 | Apr 27, 2020 (154) |
| 150 | 8.3KJPN | NC_000012.11 - 102838515 | Apr 26, 2021 (155) |
| 151 | 14KJPN | NC_000012.12 - 102444737 | Oct 16, 2022 (156) |
| 152 | TopMed | NC_000012.12 - 102444737 | Apr 26, 2021 (155) |
| 153 | UK 10K study - Twins | NC_000012.11 - 102838515 | Oct 12, 2018 (152) |
| 154 | A Vietnamese Genetic Variation Database | NC_000012.11 - 102838515 | Jul 13, 2019 (153) |
| 155 | ALFA | NC_000012.12 - 102444737 | Apr 26, 2021 (155) |
Help
History tab displays RefSNPs (Associated ID) from previous builds (Build) that now support the current RefSNP, and the dates, when the history was updated for each Associated ID (History Updated).
| Associated ID | History Updated (Build) |
|---|---|
| rs17728283 | Mar 11, 2006 (126) |
| rs60425451 | May 26, 2008 (130) |
| rs386607780 | Aug 21, 2014 (142) |
Added to this RefSNP Cluster:
| Submission IDs | Observation SPDI | Canonical SPDI | Source RSIDs |
|---|---|---|---|
| 34895413, ss3927718019 | NC_000012.11:102838514:C:A | NC_000012.12:102444736:C:A | (self) |
| ss3639004770, ss3639505167 | NC_000012.9:101340981:C:T | NC_000012.12:102444736:C:T | (self) |
| 114723, 140082, ss89356979, ss112398958, ss114027520, ss119685072, ss170789191, ss175254981, ss198620947, ss208115307, ss281527217, ss291329471, ss481477059, ss825577458, ss1397643949, ss1642001173, ss1713353167, ss2635040109, ss3642974790, ss3847462190 | NC_000012.10:101362644:C:T | NC_000012.12:102444736:C:T | (self) |
| 59208611, 32876533, 23287801, 3103853, 14668384, 34895413, 12615991, 836633, 221710, 15294325, 31009671, 8245266, 65871442, 32876533, 7297798, ss225930976, ss236066786, ss242598047, ss481505318, ss482483431, ss485533753, ss537439462, ss563368998, ss658950814, ss778593649, ss783212393, ss784167077, ss832472531, ss833093028, ss834050875, ss989898356, ss1078727380, ss1346406350, ss1427036821, ss1576488212, ss1629318425, ss1672312458, ss1752042770, ss1807393640, ss1933252395, ss1959461044, ss1967668819, ss2027382647, ss2155728912, ss2628171930, ss2633000906, ss2633000907, ss2700085924, ss2914520882, ss3010253851, ss3021459985, ss3350222928, ss3626954206, ss3631007780, ss3633032079, ss3633733492, ss3634520579, ss3635424005, ss3636206635, ss3637175003, ss3637982896, ss3640227912, ss3651841538, ss3677549553, ss3739331126, ss3744821375, ss3750894784, ss3772320626, ss3787319804, ss3792405256, ss3797288309, ss3833297455, ss3840221102, ss3878992691, ss3927718019, ss3984672215, ss3985610706, ss4017607048, ss5207902135, ss5315644794, ss5407855649, ss5624310542, ss5653844958, ss5838434367, ss5847414782, ss5945241528, ss5979401963 | NC_000012.11:102838514:C:T | NC_000012.12:102444736:C:T | (self) |
| 77685364, 417648394, 892609, 91983204, 146294332, 308379983, ss2192700518, ss3027501481, ss3649911591, ss3694348760, ss3725351730, ss3816228389, ss3845709342, ss4930748675, ss5292030434, ss5486653221, ss5590159429, ss5758146100, ss5813596009, ss5850522907, ss5905785110 | NC_000012.12:102444736:C:T | NC_000012.12:102444736:C:T | (self) |
| ss10714953, ss16297188 | NT_019546.15:26320704:C:T | NC_000012.12:102444736:C:T | (self) |
| ss24398057, ss38967125, ss66546588, ss67545150, ss67918614, ss69118887, ss70910595, ss71508181, ss75746386, ss79246940, ss84621969, ss97336083, ss105116332, ss122696589, ss133336018, ss154406838, ss157852091, ss159581977, ss160851300, ss172249705, ss174256346, ss244308113, ss410796895 | NT_029419.12:64981820:C:T | NC_000012.12:102444736:C:T | (self) |
Help
Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.
20
citations for rs7136446
| PMID | Title | Author | Year | Journal |
|---|---|---|---|---|
| 17911177 | Implications for prostate cancer of insulin-like growth factor-I (IGF-I) genetic variation and circulating IGF-I levels. | Johansson M et al. | 2007 | The Journal of clinical endocrinology and metabolism |
| 18064566 | Common genetic variation in the IGF-1 gene, serum IGF-I levels and breast density. | Verheus M et al. | 2008 | Breast cancer research and treatment |
| 18772892 | Can genes for mammographic density inform cancer aetiology? | Kelemen LE et al. | 2008 | Nature reviews. Cancer |
| 20484221 | A comprehensive analysis of common IGF1, IGFBP1 and IGFBP3 genetic variation with prospective IGF-I and IGFBP-3 blood levels and prostate cancer risk among Caucasians. | Schumacher FR et al. | 2010 | Human molecular genetics |
| 20810604 | Eighteen insulin-like growth factor pathway genes, circulating levels of IGF-I and its binding protein, and risk of prostate and breast cancer. | Gu F et al. | 2010 | Cancer epidemiology, biomarkers & prevention |
| 20935157 | Germline polymorphisms in genes involved in the IGF1 pathway predict efficacy of cetuximab in wild-type KRAS mCRC patients. | Winder T et al. | 2010 | Clinical cancer research |
| 21113804 | IGF1 htSNPs in relation to IGF-1 levels in young women from high-risk breast cancer families: implications for early-onset breast cancer. | Henningson M et al. | 2011 | Familial cancer |
| 21552154 | Common genetic variation in the IGF1 associates with maximal force output. | Huuskonen A et al. | 2011 | Medicine and science in sports and exercise |
| 22058336 | Associations between genetic polymorphisms of insulin-like growth factor axis genes and risk for age-related macular degeneration. | Chiu CJ et al. | 2011 | Investigative ophthalmology & visual science |
| 23800627 | Associations of IGF-1 gene variants and milk protein intake with IGF-I concentrations in infants at age 6 months - results from a randomized clinical trial. | Rzehak P et al. | 2013 | Growth hormone & IGF research |
| 24005314 | Genetic variation at the IGF1 locus shows association with post-stroke outcome and to circulating IGF1. | Aberg ND et al. | 2013 | European journal of endocrinology |
| 24149131 | Candidate gene analysis in israeli soldiers with stress fractures. | Yanovich R et al. | 2012 | Journal of sports science & medicine |
| 24945674 | Genetic variants of EGF and VEGF predict prognosis of patients with advanced esophageal squamous cell carcinoma. | Yang PW et al. | 2014 | PloS one |
| 26801900 | Pharmacogenetics driving personalized medicine: analysis of genetic polymorphisms related to breast cancer medications in Italian isolated populations. | Cocca M et al. | 2016 | Journal of translational medicine |
| 27225428 | Assessing the role of insulin-like growth factors and binding proteins in prostate cancer using Mendelian randomization: Genetic variants as instruments for circulating levels. | Bonilla C et al. | 2016 | International journal of cancer |
| 27376028 | Polymorphisms of Insulin-Like Growth Factor 1 Pathway Genes and Breast Cancer Risk. | Shi J et al. | 2016 | Frontiers in oncology |
| 28315227 | Insulin-like growth factor 1 gene polymorphism in women with breast cancer. | Costa-Silva DR et al. | 2017 | Medical oncology (Northwood, London, England) |
| 31787098 | The functional roles of IGF-1 variants in the susceptibility and clinical outcomes of mild traumatic brain injury. | Wang YJ et al. | 2019 | Journal of biomedical science |
| 34201855 | Dietary Acid Load and Its Interaction with IGF1 (rs35767 and rs7136446) and IL6 (rs1800796) Polymorphisms on Metabolic Traits among Postmenopausal Women. | Lim SY et al. | 2021 | Nutrients |
| 35605565 | The prevalence of IGF-I axis genetic polymorphisms among decathlon athletes. | Ben-Zaken S et al. | 2022 | Growth hormone & IGF research |
Help
The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.
Genome context:
Select flank length:
Genomic regions, transcripts, and products
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Help
NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.
NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.