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.
rs42524
Current Build 156
Released September 21, 2022
- Organism
- Homo sapiens
- Position
-
chr7:94413927 (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>G / C>T
- Variation Type
- SNV Single Nucleotide Variation
- Frequency
-
C=0.190687 (50473/264690, TOPMED)C=0.246996 (25614/103702, ALFA)C=0.14147 (11134/78702, PAGE_STUDY) (+ 21 more)
- Clinical Significance
- Reported in ClinVar
- Gene : Consequence
- COL1A2 : Missense Variant
- Publications
- 23 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.
| Population | Group | Sample Size | Ref Allele | Alt Allele |
|---|---|---|---|---|
| Total | Global | 103702 | C=0.246996 | A=0.000000, G=0.753004, T=0.000000 |
| European | Sub | 90004 | C=0.25353 | A=0.00000, G=0.74647, T=0.00000 |
| African | Sub | 1632 | C=0.1893 | A=0.0000, G=0.8107, T=0.0000 |
| African Others | Sub | 66 | C=0.02 | A=0.00, G=0.98, T=0.00 |
| African American | Sub | 1566 | C=0.1967 | A=0.0000, G=0.8033, T=0.0000 |
| Asian | Sub | 3220 | C=0.0752 | A=0.0000, G=0.9248, T=0.0000 |
| East Asian | Sub | 2588 | C=0.0580 | A=0.0000, G=0.9420, T=0.0000 |
| Other Asian | Sub | 632 | C=0.146 | A=0.000, G=0.854, T=0.000 |
| Latin American 1 | Sub | 660 | C=0.236 | A=0.000, G=0.764, T=0.000 |
| Latin American 2 | Sub | 368 | C=0.209 | A=0.000, G=0.791, T=0.000 |
| South Asian | Sub | 198 | C=0.444 | A=0.000, G=0.556, T=0.000 |
| Other | Sub | 7620 | C=0.2524 | A=0.0000, G=0.7476, T=0.0000 |
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=0.190687 | G=0.809313 |
| Allele Frequency Aggregator | Total | Global | 103702 | C=0.246996 | A=0.000000, G=0.753004, T=0.000000 |
| Allele Frequency Aggregator | European | Sub | 90004 | C=0.25353 | A=0.00000, G=0.74647, T=0.00000 |
| Allele Frequency Aggregator | Other | Sub | 7620 | C=0.2524 | A=0.0000, G=0.7476, T=0.0000 |
| Allele Frequency Aggregator | Asian | Sub | 3220 | C=0.0752 | A=0.0000, G=0.9248, T=0.0000 |
| Allele Frequency Aggregator | African | Sub | 1632 | C=0.1893 | A=0.0000, G=0.8107, T=0.0000 |
| Allele Frequency Aggregator | Latin American 1 | Sub | 660 | C=0.236 | A=0.000, G=0.764, T=0.000 |
| Allele Frequency Aggregator | Latin American 2 | Sub | 368 | C=0.209 | A=0.000, G=0.791, T=0.000 |
| Allele Frequency Aggregator | South Asian | Sub | 198 | C=0.444 | A=0.000, G=0.556, T=0.000 |
| The PAGE Study | Global | Study-wide | 78702 | C=0.14147 | G=0.85853 |
| The PAGE Study | AfricanAmerican | Sub | 32516 | C=0.11388 | G=0.88612 |
| The PAGE Study | Mexican | Sub | 10810 | C=0.17882 | G=0.82118 |
| The PAGE Study | Asian | Sub | 8318 | C=0.0527 | G=0.9473 |
| The PAGE Study | PuertoRican | Sub | 7918 | C=0.1953 | G=0.8047 |
| The PAGE Study | NativeHawaiian | Sub | 4534 | C=0.1209 | G=0.8791 |
| The PAGE Study | Cuban | Sub | 4230 | C=0.2352 | G=0.7648 |
| The PAGE Study | Dominican | Sub | 3828 | C=0.1690 | G=0.8310 |
| The PAGE Study | CentralAmerican | Sub | 2450 | C=0.1890 | G=0.8110 |
| The PAGE Study | SouthAmerican | Sub | 1982 | C=0.1620 | G=0.8380 |
| The PAGE Study | NativeAmerican | Sub | 1260 | C=0.2103 | G=0.7897 |
| The PAGE Study | SouthAsian | Sub | 856 | C=0.321 | G=0.679 |
| 14KJPN | JAPANESE | Study-wide | 28258 | C=0.03967 | G=0.96033 |
| 8.3KJPN | JAPANESE | Study-wide | 16758 | C=0.04070 | G=0.95930 |
| GO Exome Sequencing Project | Global | Study-wide | 13006 | C=0.20567 | G=0.79433 |
| GO Exome Sequencing Project | European American | Sub | 8600 | C=0.2512 | G=0.7488 |
| GO Exome Sequencing Project | African American | Sub | 4406 | C=0.1169 | G=0.8831 |
| 1000Genomes_30x | Global | Study-wide | 6404 | C=0.1763 | G=0.8237 |
| 1000Genomes_30x | African | Sub | 1786 | C=0.0873 | G=0.9127 |
| 1000Genomes_30x | Europe | Sub | 1266 | C=0.2417 | G=0.7583 |
| 1000Genomes_30x | South Asian | Sub | 1202 | C=0.3386 | G=0.6614 |
| 1000Genomes_30x | East Asian | Sub | 1170 | C=0.0966 | G=0.9034 |
| 1000Genomes_30x | American | Sub | 980 | C=0.150 | G=0.850 |
| 1000Genomes | Global | Study-wide | 5008 | C=0.1783 | G=0.8217 |
| 1000Genomes | African | Sub | 1322 | C=0.0908 | G=0.9092 |
| 1000Genomes | East Asian | Sub | 1008 | C=0.0933 | G=0.9067 |
| 1000Genomes | Europe | Sub | 1006 | C=0.2396 | G=0.7604 |
| 1000Genomes | South Asian | Sub | 978 | C=0.336 | G=0.664 |
| 1000Genomes | American | Sub | 694 | C=0.157 | G=0.843 |
| Genetic variation in the Estonian population | Estonian | Study-wide | 4480 | C=0.2386 | G=0.7614 |
| The Avon Longitudinal Study of Parents and Children | PARENT AND CHILD COHORT | Study-wide | 3854 | C=0.2410 | G=0.7590 |
| UK 10K study - Twins | TWIN COHORT | Study-wide | 3708 | C=0.2462 | G=0.7538 |
| KOREAN population from KRGDB | KOREAN | Study-wide | 2930 | C=0.0563 | A=0.0000, G=0.9437, T=0.0000 |
| Korean Genome Project | KOREAN | Study-wide | 1832 | C=0.0508 | G=0.9492 |
| Genome of the Netherlands Release 5 | Genome of the Netherlands | Study-wide | 998 | C=0.238 | G=0.762 |
| CNV burdens in cranial meningiomas | Global | Study-wide | 792 | C=0.071 | G=0.929 |
| CNV burdens in cranial meningiomas | CRM | Sub | 792 | C=0.071 | G=0.929 |
| A Vietnamese Genetic Variation Database | Global | Study-wide | 614 | C=0.147 | G=0.853 |
| Northern Sweden | ACPOP | Study-wide | 600 | C=0.248 | G=0.752 |
| Medical Genome Project healthy controls from Spanish population | Spanish controls | Study-wide | 534 | C=0.266 | G=0.734 |
| SGDP_PRJ | Global | Study-wide | 522 | C=0.125 | G=0.875 |
| FINRISK | Finnish from FINRISK project | Study-wide | 304 | C=0.211 | G=0.789 |
| HapMap | Global | Study-wide | 300 | C=0.107 | G=0.893 |
| HapMap | African | Sub | 114 | C=0.079 | G=0.921 |
| HapMap | American | Sub | 104 | C=0.202 | G=0.798 |
| HapMap | Asian | Sub | 82 | C=0.02 | G=0.98 |
| Qatari | Global | Study-wide | 216 | C=0.324 | G=0.676 |
| Siberian | Global | Study-wide | 54 | C=0.13 | G=0.87 |
| The Danish reference pan genome | Danish | Study-wide | 40 | C=0.30 | G=0.70 |
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.
| Sequence name | Change |
|---|---|
| GRCh38.p14 chr 7 | NC_000007.14:g.94413927C>A |
| GRCh38.p14 chr 7 | NC_000007.14:g.94413927C>G |
| GRCh38.p14 chr 7 | NC_000007.14:g.94413927C>T |
| GRCh37.p13 chr 7 | NC_000007.13:g.94043239C>A |
| GRCh37.p13 chr 7 | NC_000007.13:g.94043239C>G |
| GRCh37.p13 chr 7 | NC_000007.13:g.94043239C>T |
| COL1A2 RefSeqGene (LRG_2) | NG_007405.1:g.24367C>A |
| COL1A2 RefSeqGene (LRG_2) | NG_007405.1:g.24367C>G |
| COL1A2 RefSeqGene (LRG_2) | NG_007405.1:g.24367C>T |
| Molecule type | Change | Amino acid[Codon] | SO Term |
|---|---|---|---|
| COL1A2 transcript | NM_000089.4:c.1645C>A | P [CCT] > T [ACT] | Coding Sequence Variant |
| collagen alpha-2(I) chain precursor | NP_000080.2:p.Pro549Thr | P (Pro) > T (Thr) | Missense Variant |
| COL1A2 transcript | NM_000089.4:c.1645C>G | P [CCT] > A [GCT] | Coding Sequence Variant |
| collagen alpha-2(I) chain precursor | NP_000080.2:p.Pro549Ala | P (Pro) > A (Ala) | Missense Variant |
| COL1A2 transcript | NM_000089.4:c.1645C>T | P [CCT] > S [TCT] | Coding Sequence Variant |
| collagen alpha-2(I) chain precursor | NP_000080.2:p.Pro549Ser | P (Pro) > S (Ser) | Missense Variant |
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.
| ClinVar Accession | Disease Names | Clinical Significance |
|---|---|---|
| RCV000244604.12 | not specified | Benign |
| RCV000269609.6 | Ehlers-danlos syndrome, arthrochalasia type, 2 | Benign |
| RCV000323983.5 | Osteogenesis imperfecta | Benign |
| RCV000987925.2 | Ehlers-Danlos syndrome, classic type | Benign |
| RCV001512869.5 | Ehlers-Danlos syndrome, classic type, 1,Osteogenesis imperfecta type I | Benign |
| RCV001589216.3 | Osteogenesis imperfecta type III | Benign |
| RCV001589217.3 | Osteogenesis imperfecta with normal sclerae, dominant form | Benign |
| RCV001589218.3 | Osteogenesis imperfecta, recessive perinatal lethal | Benign |
| RCV001812668.4 | not provided | Benign |
| RCV002277599.1 | Ehlers-Danlos syndrome | Benign |
| ClinVar Accession | Disease Names | Clinical Significance |
|---|---|---|
| RCV002240628.4 | Ehlers-Danlos syndrome, classic type, 1,Osteogenesis imperfecta type I | Uncertain-Significance |
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 | G | T |
|---|---|---|---|---|
| GRCh38.p14 chr 7 | NC_000007.14:g.94413927= | NC_000007.14:g.94413927C>A | NC_000007.14:g.94413927C>G | NC_000007.14:g.94413927C>T |
| GRCh37.p13 chr 7 | NC_000007.13:g.94043239= | NC_000007.13:g.94043239C>A | NC_000007.13:g.94043239C>G | NC_000007.13:g.94043239C>T |
| COL1A2 RefSeqGene (LRG_2) | NG_007405.1:g.24367= | NG_007405.1:g.24367C>A | NG_007405.1:g.24367C>G | NG_007405.1:g.24367C>T |
| COL1A2 transcript | NM_000089.4:c.1645= | NM_000089.4:c.1645C>A | NM_000089.4:c.1645C>G | NM_000089.4:c.1645C>T |
| COL1A2 transcript | NM_000089.3:c.1645= | NM_000089.3:c.1645C>A | NM_000089.3:c.1645C>G | NM_000089.3:c.1645C>T |
| collagen alpha-2(I) chain precursor | NP_000080.2:p.Pro549= | NP_000080.2:p.Pro549Thr | NP_000080.2:p.Pro549Ala | NP_000080.2:p.Pro549Ser |
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#.
| No | Submitter | Submission ID | Date (Build) |
|---|---|---|---|
| 1 | KWOK | ss48233 | May 08, 2000 (76) |
| 2 | SC_JCM | ss574793 | Jul 16, 2000 (80) |
| 3 | LEE | ss1539984 | Oct 13, 2000 (102) |
| 4 | TSC-CSHL | ss3127654 | Jun 15, 2001 (96) |
| 5 | BCM_SSAHASNP | ss10382330 | Jul 11, 2003 (116) |
| 6 | WUGSC_SSAHASNP | ss14589544 | Dec 05, 2003 (120) |
| 7 | CSHL-HAPMAP | ss17194436 | Feb 27, 2004 (120) |
| 8 | SSAHASNP | ss22635969 | Apr 05, 2004 (121) |
| 9 | SSAHASNP | ss22949748 | Apr 05, 2004 (121) |
| 10 | MGC_GENOME_DIFF | ss28511746 | Sep 24, 2004 (126) |
| 11 | APPLERA_GI | ss48409873 | Mar 11, 2006 (126) |
| 12 | UCSF_HG | ss52050874 | Oct 15, 2006 (127) |
| 13 | ILLUMINA | ss65728209 | Oct 15, 2006 (127) |
| 14 | PERLEGEN | ss69022531 | May 17, 2007 (127) |
| 15 | AFFY | ss74807364 | Aug 16, 2007 (128) |
| 16 | HGSV | ss81937647 | Dec 15, 2007 (130) |
| 17 | HGSV | ss84667465 | Dec 15, 2007 (130) |
| 18 | BCMHGSC_JDW | ss93729185 | Mar 24, 2008 (129) |
| 19 | HUMANGENOME_JCVI | ss98170472 | Feb 05, 2009 (130) |
| 20 | BGI | ss105558039 | Feb 05, 2009 (130) |
| 21 | 1000GENOMES | ss112363946 | Jan 25, 2009 (130) |
| 22 | 1000GENOMES | ss114111593 | Jan 25, 2009 (130) |
| 23 | ILLUMINA-UK | ss116201278 | Feb 14, 2009 (130) |
| 24 | ILLUMINA | ss120035974 | Dec 01, 2009 (131) |
| 25 | ENSEMBL | ss139334248 | Dec 01, 2009 (131) |
| 26 | ENSEMBL | ss142691381 | Dec 01, 2009 (131) |
| 27 | GMI | ss155206328 | Dec 01, 2009 (131) |
| 28 | SEATTLESEQ | ss159715159 | Dec 01, 2009 (131) |
| 29 | ILLUMINA | ss160668102 | Dec 01, 2009 (131) |
| 30 | COMPLETE_GENOMICS | ss162537592 | Jul 04, 2010 (132) |
| 31 | COMPLETE_GENOMICS | ss164875270 | Jul 04, 2010 (132) |
| 32 | COMPLETE_GENOMICS | ss166870612 | Jul 04, 2010 (132) |
| 33 | ILLUMINA | ss168916475 | Jul 04, 2010 (132) |
| 34 | BUSHMAN | ss197928153 | Jul 04, 2010 (132) |
| 35 | BCM-HGSC-SUB | ss208299669 | Jul 04, 2010 (132) |
| 36 | 1000GENOMES | ss223210759 | Jul 14, 2010 (132) |
| 37 | 1000GENOMES | ss234080267 | Jul 15, 2010 (132) |
| 38 | 1000GENOMES | ss241015208 | Jul 15, 2010 (132) |
| 39 | ILLUMINA | ss244299351 | Jul 04, 2010 (132) |
| 40 | BL | ss254522120 | May 09, 2011 (134) |
| 41 | GMI | ss279443085 | May 04, 2012 (137) |
| 42 | PJP | ss293918279 | May 09, 2011 (134) |
| 43 | NHLBI-ESP | ss342239566 | May 09, 2011 (134) |
| 44 | ILLUMINA | ss480910356 | May 04, 2012 (137) |
| 45 | ILLUMINA | ss480929410 | May 04, 2012 (137) |
| 46 | ILLUMINA | ss481887120 | Sep 08, 2015 (146) |
| 47 | ILLUMINA | ss485250194 | May 04, 2012 (137) |
| 48 | 1000GENOMES | ss490948919 | May 04, 2012 (137) |
| 49 | EXOME_CHIP | ss491401797 | May 04, 2012 (137) |
| 50 | CLINSEQ_SNP | ss491909824 | May 04, 2012 (137) |
| 51 | ILLUMINA | ss537221803 | Sep 08, 2015 (146) |
| 52 | TISHKOFF | ss560161945 | Apr 25, 2013 (138) |
| 53 | SSMP | ss654563847 | Apr 25, 2013 (138) |
| 54 | ILLUMINA | ss778718482 | Aug 21, 2014 (142) |
| 55 | ILLUMINA | ss780861351 | Aug 21, 2014 (142) |
| 56 | ILLUMINA | ss783071044 | Aug 21, 2014 (142) |
| 57 | ILLUMINA | ss783545801 | Aug 21, 2014 (142) |
| 58 | ILLUMINA | ss784028863 | Aug 21, 2014 (142) |
| 59 | ILLUMINA | ss832329162 | Apr 01, 2015 (144) |
| 60 | ILLUMINA | ss834177842 | Aug 21, 2014 (142) |
| 61 | JMKIDD_LAB | ss974464965 | Aug 21, 2014 (142) |
| 62 | EVA-GONL | ss984553774 | Aug 21, 2014 (142) |
| 63 | JMKIDD_LAB | ss1067489763 | Aug 21, 2014 (142) |
| 64 | JMKIDD_LAB | ss1074805817 | Aug 21, 2014 (142) |
| 65 | 1000GENOMES | ss1326196769 | Aug 21, 2014 (142) |
| 66 | DDI | ss1431212083 | Apr 01, 2015 (144) |
| 67 | EVA_GENOME_DK | ss1582311148 | Apr 01, 2015 (144) |
| 68 | EVA_FINRISK | ss1584053508 | Apr 01, 2015 (144) |
| 69 | EVA_DECODE | ss1594131563 | Apr 01, 2015 (144) |
| 70 | EVA_UK10K_ALSPAC | ss1618725969 | Apr 01, 2015 (144) |
| 71 | EVA_UK10K_TWINSUK | ss1661720002 | Apr 01, 2015 (144) |
| 72 | EVA_EXAC | ss1688821038 | Apr 01, 2015 (144) |
| 73 | EVA_EXAC | ss1688821039 | Apr 01, 2015 (144) |
| 74 | EVA_EXAC | ss1688821040 | Apr 01, 2015 (144) |
| 75 | EVA_MGP | ss1711171765 | Apr 01, 2015 (144) |
| 76 | ILLUMINA | ss1752700703 | Sep 08, 2015 (146) |
| 77 | ILLUMINA | ss1752700704 | Sep 08, 2015 (146) |
| 78 | HAMMER_LAB | ss1805117448 | Sep 08, 2015 (146) |
| 79 | ILLUMINA | ss1917819080 | Feb 12, 2016 (147) |
| 80 | WEILL_CORNELL_DGM | ss1927813912 | Feb 12, 2016 (147) |
| 81 | ILLUMINA | ss1946214369 | Feb 12, 2016 (147) |
| 82 | ILLUMINA | ss1959032689 | Feb 12, 2016 (147) |
| 83 | GENOMED | ss1970763699 | Jul 19, 2016 (147) |
| 84 | JJLAB | ss2024590233 | Sep 14, 2016 (149) |
| 85 | USC_VALOUEV | ss2152811492 | Dec 20, 2016 (150) |
| 86 | HUMAN_LONGEVITY | ss2295913758 | Dec 20, 2016 (150) |
| 87 | SYSTEMSBIOZJU | ss2626787058 | Nov 08, 2017 (151) |
| 88 | ILLUMINA | ss2634633911 | Nov 08, 2017 (151) |
| 89 | ILLUMINA | ss2635174533 | Nov 08, 2017 (151) |
| 90 | GRF | ss2708519531 | Nov 08, 2017 (151) |
| 91 | GNOMAD | ss2736567058 | Nov 08, 2017 (151) |
| 92 | GNOMAD | ss2747862071 | Nov 08, 2017 (151) |
| 93 | GNOMAD | ss2856350704 | Nov 08, 2017 (151) |
| 94 | AFFY | ss2985412695 | Nov 08, 2017 (151) |
| 95 | SWEGEN | ss3001649413 | Nov 08, 2017 (151) |
| 96 | BIOINF_KMB_FNS_UNIBA | ss3026087979 | Nov 08, 2017 (151) |
| 97 | CSHL | ss3347736459 | Nov 08, 2017 (151) |
| 98 | ILLUMINA | ss3629865668 | Oct 12, 2018 (152) |
| 99 | ILLUMINA | ss3629865669 | Oct 12, 2018 (152) |
| 100 | ILLUMINA | ss3632539813 | Oct 12, 2018 (152) |
| 101 | ILLUMINA | ss3633470831 | Oct 12, 2018 (152) |
| 102 | ILLUMINA | ss3634196122 | Oct 12, 2018 (152) |
| 103 | ILLUMINA | ss3635131158 | Oct 12, 2018 (152) |
| 104 | ILLUMINA | ss3635131159 | Oct 12, 2018 (152) |
| 105 | ILLUMINA | ss3635875739 | Oct 12, 2018 (152) |
| 106 | ILLUMINA | ss3636864904 | Oct 12, 2018 (152) |
| 107 | ILLUMINA | ss3637628745 | Oct 12, 2018 (152) |
| 108 | ILLUMINA | ss3638710876 | Oct 12, 2018 (152) |
| 109 | ILLUMINA | ss3640838450 | Oct 12, 2018 (152) |
| 110 | ILLUMINA | ss3640838451 | Oct 12, 2018 (152) |
| 111 | ILLUMINA | ss3644947464 | Oct 12, 2018 (152) |
| 112 | OMUKHERJEE_ADBS | ss3646359331 | Oct 12, 2018 (152) |
| 113 | URBANLAB | ss3648703693 | Oct 12, 2018 (152) |
| 114 | ILLUMINA | ss3654174227 | Oct 12, 2018 (152) |
| 115 | EGCUT_WGS | ss3669406940 | Jul 13, 2019 (153) |
| 116 | EVA_DECODE | ss3720230939 | Jul 13, 2019 (153) |
| 117 | ACPOP | ss3734872339 | Jul 13, 2019 (153) |
| 118 | ILLUMINA | ss3744570032 | Jul 13, 2019 (153) |
| 119 | ILLUMINA | ss3745431183 | Jul 13, 2019 (153) |
| 120 | ILLUMINA | ss3745431184 | Jul 13, 2019 (153) |
| 121 | EVA | ss3766882508 | Jul 13, 2019 (153) |
| 122 | PAGE_CC | ss3771384123 | Jul 13, 2019 (153) |
| 123 | ILLUMINA | ss3772924067 | Jul 13, 2019 (153) |
| 124 | ILLUMINA | ss3772924068 | Jul 13, 2019 (153) |
| 125 | PACBIO | ss3785895723 | Jul 13, 2019 (153) |
| 126 | PACBIO | ss3791185821 | Jul 13, 2019 (153) |
| 127 | PACBIO | ss3796065806 | Jul 13, 2019 (153) |
| 128 | KHV_HUMAN_GENOMES | ss3810055132 | Jul 13, 2019 (153) |
| 129 | EVA | ss3824292108 | Apr 26, 2020 (154) |
| 130 | EVA | ss3825723480 | Apr 26, 2020 (154) |
| 131 | EVA | ss3830705528 | Apr 26, 2020 (154) |
| 132 | EVA | ss3838851236 | Apr 26, 2020 (154) |
| 133 | EVA | ss3844306203 | Apr 26, 2020 (154) |
| 134 | SGDP_PRJ | ss3867908948 | Apr 26, 2020 (154) |
| 135 | KRGDB | ss3915183411 | Apr 26, 2020 (154) |
| 136 | KOGIC | ss3962114440 | Apr 26, 2020 (154) |
| 137 | FSA-LAB | ss3984372762 | Apr 26, 2021 (155) |
| 138 | FSA-LAB | ss3984372763 | Apr 26, 2021 (155) |
| 139 | EVA | ss3984591877 | Apr 26, 2021 (155) |
| 140 | EVA | ss3986040447 | Apr 26, 2021 (155) |
| 141 | EVA | ss3986389251 | Apr 26, 2021 (155) |
| 142 | TOPMED | ss4755308239 | Apr 26, 2021 (155) |
| 143 | TOMMO_GENOMICS | ss5184495212 | Apr 26, 2021 (155) |
| 144 | EVA | ss5237034863 | Apr 26, 2021 (155) |
| 145 | EVA | ss5237196947 | Apr 26, 2021 (155) |
| 146 | EVA | ss5237649552 | Oct 13, 2022 (156) |
| 147 | 1000G_HIGH_COVERAGE | ss5273905059 | Oct 13, 2022 (156) |
| 148 | TRAN_CS_UWATERLOO | ss5314420500 | Oct 13, 2022 (156) |
| 149 | EVA | ss5315264242 | Oct 13, 2022 (156) |
| 150 | EVA | ss5375273084 | Oct 13, 2022 (156) |
| 151 | HUGCELL_USP | ss5470889381 | Oct 13, 2022 (156) |
| 152 | 1000G_HIGH_COVERAGE | ss5562622402 | Oct 13, 2022 (156) |
| 153 | EVA | ss5623940747 | Oct 13, 2022 (156) |
| 154 | EVA | ss5624168616 | Oct 13, 2022 (156) |
| 155 | SANFORD_IMAGENETICS | ss5643517118 | Oct 13, 2022 (156) |
| 156 | TOMMO_GENOMICS | ss5725153616 | Oct 13, 2022 (156) |
| 157 | EVA | ss5799731064 | Oct 13, 2022 (156) |
| 158 | EVA | ss5800058123 | Oct 13, 2022 (156) |
| 159 | EVA | ss5800140412 | Oct 13, 2022 (156) |
| 160 | YY_MCH | ss5808894942 | Oct 13, 2022 (156) |
| 161 | EVA | ss5823207373 | Oct 13, 2022 (156) |
| 162 | EVA | ss5848145508 | Oct 13, 2022 (156) |
| 163 | EVA | ss5848686600 | Oct 13, 2022 (156) |
| 164 | EVA | ss5856007976 | Oct 13, 2022 (156) |
| 165 | EVA | ss5859944595 | Oct 13, 2022 (156) |
| 166 | EVA | ss5936535693 | Oct 13, 2022 (156) |
| 167 | EVA | ss5972697938 | Oct 13, 2022 (156) |
| 168 | EVA | ss5980449593 | Oct 13, 2022 (156) |
| 169 | EVA | ss5981244120 | Oct 13, 2022 (156) |
| 170 | 1000Genomes | NC_000007.13 - 94043239 | Oct 12, 2018 (152) |
| 171 | 1000Genomes_30x | NC_000007.14 - 94413927 | Oct 13, 2022 (156) |
| 172 | The Avon Longitudinal Study of Parents and Children | NC_000007.13 - 94043239 | Oct 12, 2018 (152) |
| 173 | Genetic variation in the Estonian population | NC_000007.13 - 94043239 | Oct 12, 2018 (152) |
| 174 |
ExAC
Submission ignored due to conflicting rows: |
- | Oct 12, 2018 (152) |
| 175 |
ExAC
Submission ignored due to conflicting rows: |
- | Oct 12, 2018 (152) |
| 176 |
ExAC
Submission ignored due to conflicting rows: |
- | Oct 12, 2018 (152) |
| 177 | FINRISK | NC_000007.13 - 94043239 | Apr 26, 2020 (154) |
| 178 | The Danish reference pan genome | NC_000007.13 - 94043239 | Apr 26, 2020 (154) |
| 179 |
gnomAD - Genomes
Submission ignored due to conflicting rows: |
- | Apr 26, 2021 (155) |
| 180 |
gnomAD - Genomes
Submission ignored due to conflicting rows: |
- | Apr 26, 2021 (155) |
| 181 |
gnomAD - Genomes
Submission ignored due to conflicting rows: |
- | Apr 26, 2021 (155) |
| 182 |
gnomAD - Exomes
Submission ignored due to conflicting rows: |
- | Jul 13, 2019 (153) |
| 183 |
gnomAD - Exomes
Submission ignored due to conflicting rows: |
- | Jul 13, 2019 (153) |
| 184 |
gnomAD - Exomes
Submission ignored due to conflicting rows: |
- | Jul 13, 2019 (153) |
| 185 | GO Exome Sequencing Project | NC_000007.13 - 94043239 | Oct 12, 2018 (152) |
| 186 | Genome of the Netherlands Release 5 | NC_000007.13 - 94043239 | Apr 26, 2020 (154) |
| 187 | HapMap | NC_000007.14 - 94413927 | Apr 26, 2020 (154) |
| 188 | KOREAN population from KRGDB | NC_000007.13 - 94043239 | Apr 26, 2020 (154) |
| 189 | Korean Genome Project | NC_000007.14 - 94413927 | Apr 26, 2020 (154) |
| 190 | Medical Genome Project healthy controls from Spanish population | NC_000007.13 - 94043239 | Apr 26, 2020 (154) |
| 191 | Northern Sweden | NC_000007.13 - 94043239 | Jul 13, 2019 (153) |
| 192 | The PAGE Study | NC_000007.14 - 94413927 | Jul 13, 2019 (153) |
| 193 | CNV burdens in cranial meningiomas | NC_000007.13 - 94043239 | Apr 26, 2021 (155) |
| 194 | Qatari | NC_000007.13 - 94043239 | Apr 26, 2020 (154) |
| 195 | SGDP_PRJ | NC_000007.13 - 94043239 | Apr 26, 2020 (154) |
| 196 | Siberian | NC_000007.13 - 94043239 | Apr 26, 2020 (154) |
| 197 | 8.3KJPN | NC_000007.13 - 94043239 | Apr 26, 2021 (155) |
| 198 | 14KJPN | NC_000007.14 - 94413927 | Oct 13, 2022 (156) |
| 199 | TopMed | NC_000007.14 - 94413927 | Apr 26, 2021 (155) |
| 200 | UK 10K study - Twins | NC_000007.13 - 94043239 | Oct 12, 2018 (152) |
| 201 | A Vietnamese Genetic Variation Database | NC_000007.13 - 94043239 | Jul 13, 2019 (153) |
| 202 | ALFA | NC_000007.14 - 94413927 | Apr 26, 2021 (155) |
| 203 | ClinVar | RCV000244604.12 | Oct 13, 2022 (156) |
| 204 | ClinVar | RCV000269609.6 | Oct 13, 2022 (156) |
| 205 | ClinVar | RCV000323983.5 | Oct 13, 2022 (156) |
| 206 | ClinVar | RCV000987925.2 | Oct 13, 2022 (156) |
| 207 | ClinVar | RCV001512869.5 | Oct 13, 2022 (156) |
| 208 | ClinVar | RCV001589216.3 | Oct 13, 2022 (156) |
| 209 | ClinVar | RCV001589217.3 | Oct 13, 2022 (156) |
| 210 | ClinVar | RCV001589218.3 | Oct 13, 2022 (156) |
| 211 | ClinVar | RCV001812668.4 | Oct 13, 2022 (156) |
| 212 | ClinVar | RCV002240628.4 | Oct 13, 2022 (156) |
| 213 | ClinVar | RCV002277599.1 | Oct 13, 2022 (156) |
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) |
|---|---|
| rs1136007 | Jan 04, 2002 (102) |
| rs10383941 | Feb 27, 2004 (120) |
| rs17857444 | Mar 11, 2006 (126) |
| rs59646360 | May 25, 2008 (130) |
| Submission IDs | Observation SPDI | Canonical SPDI | Source RSIDs |
|---|---|---|---|
| 22360805, ss1688821039, ss2736567058, ss3915183411 | NC_000007.13:94043238:C:A | NC_000007.14:94413926:C:A | (self) |
| 3867243640, ss2295913758 | NC_000007.14:94413926:C:A | NC_000007.14:94413926:C:A | (self) |
| ss81937647, ss84667465 | NC_000007.11:93687889:C:G | NC_000007.14:94413926:C:G | (self) |
| ss93729185, ss112363946, ss114111593, ss116201278, ss162537592, ss164875270, ss166870612, ss197928153, ss208299669, ss254522120, ss279443085, ss293918279, ss480910356, ss491909824, ss1594131563, ss2635174533 | NC_000007.12:93881174:C:G | NC_000007.14:94413926:C:G | (self) |
| 38205391, 21259883, 15145188, 49969, 8476087, 750058, 9491822, 22360805, 287525, 8157204, 141303, 9855842, 19925928, 5327846, 42464519, 21259883, 4741777, ss223210759, ss234080267, ss241015208, ss342239566, ss480929410, ss481887120, ss485250194, ss490948919, ss491401797, ss537221803, ss560161945, ss654563847, ss778718482, ss780861351, ss783071044, ss783545801, ss784028863, ss832329162, ss834177842, ss974464965, ss984553774, ss1067489763, ss1074805817, ss1326196769, ss1431212083, ss1582311148, ss1584053508, ss1618725969, ss1661720002, ss1688821038, ss1711171765, ss1752700703, ss1752700704, ss1805117448, ss1917819080, ss1927813912, ss1946214369, ss1959032689, ss1970763699, ss2024590233, ss2152811492, ss2626787058, ss2634633911, ss2708519531, ss2736567058, ss2747862071, ss2856350704, ss2985412695, ss3001649413, ss3347736459, ss3629865668, ss3629865669, ss3632539813, ss3633470831, ss3634196122, ss3635131158, ss3635131159, ss3635875739, ss3636864904, ss3637628745, ss3638710876, ss3640838450, ss3640838451, ss3644947464, ss3646359331, ss3654174227, ss3669406940, ss3734872339, ss3744570032, ss3745431183, ss3745431184, ss3766882508, ss3772924067, ss3772924068, ss3785895723, ss3791185821, ss3796065806, ss3824292108, ss3825723480, ss3830705528, ss3838851236, ss3867908948, ss3915183411, ss3984372762, ss3984372763, ss3984591877, ss3986040447, ss3986389251, ss5184495212, ss5315264242, ss5375273084, ss5623940747, ss5624168616, ss5643517118, ss5799731064, ss5800058123, ss5800140412, ss5823207373, ss5848145508, ss5848686600, ss5936535693, ss5972697938, ss5980449593, ss5981244120 | NC_000007.13:94043238:C:G | NC_000007.14:94413926:C:G | (self) |
| RCV000244604.12, RCV000269609.6, RCV000323983.5, RCV000987925.2, RCV001512869.5, RCV001589216.3, RCV001589217.3, RCV001589218.3, RCV001812668.4, RCV002277599.1, 50148337, 3449133, 18492441, 605592, 58990720, 592685798, 3867243640, ss2295913758, ss3026087979, ss3648703693, ss3720230939, ss3771384123, ss3810055132, ss3844306203, ss3962114440, ss4755308239, ss5237034863, ss5237196947, ss5237649552, ss5273905059, ss5314420500, ss5470889381, ss5562622402, ss5725153616, ss5808894942, ss5856007976, ss5859944595 | NC_000007.14:94413926:C:G | NC_000007.14:94413926:C:G | (self) |
| ss10382330 | NT_007933.12:19277454:C:G | NC_000007.14:94413926:C:G | (self) |
| ss14589544, ss17194436, ss22635969, ss22949748 | NT_007933.13:19277454:C:G | NC_000007.14:94413926:C:G | (self) |
| ss48233, ss574793, ss1539984, ss3127654, ss28511746, ss48409873, ss52050874, ss65728209, ss69022531, ss74807364, ss98170472, ss105558039, ss120035974, ss139334248, ss142691381, ss155206328, ss159715159, ss160668102, ss168916475, ss244299351 | NT_007933.15:32076081:C:G | NC_000007.14:94413926:C:G | (self) |
| 22360805, ss1688821040, ss2736567058, ss3915183411 | NC_000007.13:94043238:C:T | NC_000007.14:94413926:C:T | (self) |
| RCV002240628.4, 3867243640, ss2295913758 | NC_000007.14:94413926:C:T | NC_000007.14:94413926:C:T | (self) |
Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.
| PMID | Title | Author | Year | Journal |
|---|---|---|---|---|
| 16361613 | The collagen 1A2 polymorphism rs42524, which is associated with intracranial aneurysms, shows no association with spontaneous cervical artery dissection (sCAD). | Kuhlenbäumer G et al. | 2006 | Journal of neurology, neurosurgery, and psychiatry |
| 18996919 | Mutation and polymorphism spectrum in osteogenesis imperfecta type II: implications for genotype-phenotype relationships. | Bodian DL et al. | 2009 | Human molecular genetics |
| 19035720 | Polymorphism rs42524 of COL1A2 and sporadic intracranial aneurysms in the Chinese population. | Zhu Y et al. | 2008 | Journal of neurosurgery |
| 19426706 | Heterozygosity for a coding SNP in COL1A2 confers a lower BMD and an increased stroke risk. | Lindahl K et al. | 2009 | Biochemical and biophysical research communications |
| 19559927 | The role of collagen type I alpha2 polymorphisms: intracranial aneurysms in Koreans. | Joo SP et al. | 2009 | Surgical neurology |
| 20140262 | Maternal and fetal genetic associations of PTGER3 and PON1 with preterm birth. | Ryckman KK et al. | 2010 | PloS one |
| 20357209 | Molecular genetic studies of gene identification for osteoporosis: the 2009 update. | Xu XH et al. | 2010 | Endocrine reviews |
| 21602843 | No association between polymorphisms and haplotypes of COL1A1 and COL1A2 genes and osteoporotic fracture in postmenopausal Chinese women. | Hu WW et al. | 2011 | Acta pharmacologica Sinica |
| 21992066 | Challenges in the association of human single nucleotide polymorphism mentions with unique database identifiers. | Thomas PE et al. | 2011 | BMC bioinformatics |
| 22815632 | COL1A2 polymorphic markers confer an increased risk of neovascular age-related macular degeneration in a Han Chinese population. | Zuo C et al. | 2012 | Molecular vision |
| 23036172 | The rs42524 COL1A2 polymorphism is associated with primary intracerebral hemorrhage in a Chinese population. | Liu W et al. | 2012 | Journal of clinical neuroscience |
| 23800505 | Associations of collagen type I α2 polymorphisms with the presence of intracranial aneurysms in patients from Germany. | Gläsker S et al. | 2014 | Journal of stroke and cerebrovascular diseases |
| 24033266 | A systematic approach to assessing the clinical significance of genetic variants. | Duzkale H et al. | 2013 | Clinical genetics |
| 25741868 | Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. | Richards S et al. | 2015 | Genetics in medicine |
| 27266510 | T-helper-associated cytokines expression by peripheral blood mononuclear cells in patients with polypoidal choroidal vasculopathy and age-related macular degeneration. | Yu Y et al. | 2016 | BMC ophthalmology |
| 28671939 | Collagen Type I Alpha 2 (COL1A2) Polymorphism Contributes to Intracranial Aneurysm Susceptibility: A Meta-Analysis. | Gan Q et al. | 2017 | Medical science monitor |
| 29086084 | The association between collagen gene polymorphisms and intracranial aneurysms: a meta-analysis. | Meng Q et al. | 2019 | Neurosurgical review |
| 29164999 | Collagen type-I A2 gene polymorphisms and susceptibility to intracranial aneurysms: a meta-analysis of genetic association studies. | Brotis AG et al. | 2018 | The International journal of neuroscience |
| 29236161 | Genetic analysis of adults heterozygous for ALPL mutations. | Taillandier A et al. | 2018 | Journal of bone and mineral metabolism |
| 30182779 | Genetic susceptibility to cerebrovascular disease: A systematic review. | Griessenauer CJ et al. | 2018 | Journal of cerebral blood flow and metabolism |
| 30716784 | Association between col1a2 Polymorphism and the Occurrence of Pelvic Organ Prolapse in Brazilian Women. | Rosa JPF et al. | 2019 | Revista brasileira de ginecologia e obstetricia |
| 32185656 | Evaluating the Association Between Dental Fluorosis and Polymorphisms in Bone Development and Mineralization Genes Among Population from a Fluoride Endemic Region of Eastern India. | Saha D et al. | 2021 | Biological trace element research |
| 33893823 | Systematic review and meta-analysis of genetic association studies of pelvic organ prolapse. | Allen-Brady K et al. | 2022 | International urogynecology journal |
The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.
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.