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.
rs1042839
Current Build 156
Released September 21, 2022
- Organism
- Homo sapiens
- Position
-
chr11:101051471 (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
- G>A
- Variation Type
- SNV Single Nucleotide Variation
- Frequency
-
A=0.110080 (29137/264690, TOPMED)A=0.128502 (32181/250432, GnomAD_exome)A=0.115435 (16163/140018, GnomAD) (+ 24 more)
- Clinical Significance
- Not Reported in ClinVar
- Gene : Consequence
- PGR : Synonymous Variant
- Publications
- 18 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 | 128318 | G=0.851595 | A=0.148405 |
| European | Sub | 100782 | G=0.837094 | A=0.162906 |
| African | Sub | 10184 | G=0.96367 | A=0.03633 |
| African Others | Sub | 372 | G=0.992 | A=0.008 |
| African American | Sub | 9812 | G=0.9626 | A=0.0374 |
| Asian | Sub | 258 | G=0.981 | A=0.019 |
| East Asian | Sub | 186 | G=0.978 | A=0.022 |
| Other Asian | Sub | 72 | G=0.99 | A=0.01 |
| Latin American 1 | Sub | 622 | G=0.895 | A=0.105 |
| Latin American 2 | Sub | 1334 | G=0.8688 | A=0.1312 |
| South Asian | Sub | 4972 | G=0.9179 | A=0.0821 |
| Other | Sub | 10166 | G=0.84242 | A=0.15758 |
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 | G=0.889920 | A=0.110080 |
| gnomAD - Exomes | Global | Study-wide | 250432 | G=0.871498 | A=0.128502 |
| gnomAD - Exomes | European | Sub | 134596 | G=0.846169 | A=0.153831 |
| gnomAD - Exomes | Asian | Sub | 48972 | G=0.94775 | A=0.05225 |
| gnomAD - Exomes | American | Sub | 34466 | G=0.85220 | A=0.14780 |
| gnomAD - Exomes | African | Sub | 16246 | G=0.97335 | A=0.02665 |
| gnomAD - Exomes | Ashkenazi Jewish | Sub | 10056 | G=0.75378 | A=0.24622 |
| gnomAD - Exomes | Other | Sub | 6096 | G=0.8501 | A=0.1499 |
| gnomAD - Genomes | Global | Study-wide | 140018 | G=0.884565 | A=0.115435 |
| gnomAD - Genomes | European | Sub | 75814 | G=0.84325 | A=0.15675 |
| gnomAD - Genomes | African | Sub | 42000 | G=0.96900 | A=0.03100 |
| gnomAD - Genomes | American | Sub | 13604 | G=0.86511 | A=0.13489 |
| gnomAD - Genomes | Ashkenazi Jewish | Sub | 3324 | G=0.7497 | A=0.2503 |
| gnomAD - Genomes | East Asian | Sub | 3130 | G=0.9875 | A=0.0125 |
| gnomAD - Genomes | Other | Sub | 2146 | G=0.8737 | A=0.1263 |
| ExAC | Global | Study-wide | 120692 | G=0.875800 | A=0.124200 |
| ExAC | Europe | Sub | 72968 | G=0.84311 | A=0.15689 |
| ExAC | Asian | Sub | 25088 | G=0.94571 | A=0.05429 |
| ExAC | American | Sub | 11426 | G=0.84597 | A=0.15403 |
| ExAC | African | Sub | 10308 | G=0.97012 | A=0.02988 |
| ExAC | Other | Sub | 902 | G=0.876 | A=0.124 |
| Allele Frequency Aggregator | Total | Global | 112058 | G=0.847035 | A=0.152965 |
| Allele Frequency Aggregator | European | Sub | 90784 | G=0.83641 | A=0.16359 |
| Allele Frequency Aggregator | Other | Sub | 8738 | G=0.8394 | A=0.1606 |
| Allele Frequency Aggregator | African | Sub | 5350 | G=0.9563 | A=0.0437 |
| Allele Frequency Aggregator | South Asian | Sub | 4972 | G=0.9179 | A=0.0821 |
| Allele Frequency Aggregator | Latin American 2 | Sub | 1334 | G=0.8688 | A=0.1312 |
| Allele Frequency Aggregator | Latin American 1 | Sub | 622 | G=0.895 | A=0.105 |
| Allele Frequency Aggregator | Asian | Sub | 258 | G=0.981 | A=0.019 |
| 14KJPN | JAPANESE | Study-wide | 28258 | G=0.99076 | A=0.00924 |
| 8.3KJPN | JAPANESE | Study-wide | 16758 | G=0.99111 | A=0.00889 |
| GO Exome Sequencing Project | Global | Study-wide | 13006 | G=0.88175 | A=0.11825 |
| GO Exome Sequencing Project | European American | Sub | 8600 | G=0.8364 | A=0.1636 |
| GO Exome Sequencing Project | African American | Sub | 4406 | G=0.9703 | A=0.0297 |
| 1000Genomes_30x | Global | Study-wide | 6404 | G=0.9299 | A=0.0701 |
| 1000Genomes_30x | African | Sub | 1786 | G=0.9938 | A=0.0062 |
| 1000Genomes_30x | Europe | Sub | 1266 | G=0.8270 | A=0.1730 |
| 1000Genomes_30x | South Asian | Sub | 1202 | G=0.9393 | A=0.0607 |
| 1000Genomes_30x | East Asian | Sub | 1170 | G=0.9897 | A=0.0103 |
| 1000Genomes_30x | American | Sub | 980 | G=0.863 | A=0.137 |
| 1000Genomes | Global | Study-wide | 5008 | G=0.9297 | A=0.0703 |
| 1000Genomes | African | Sub | 1322 | G=0.9939 | A=0.0061 |
| 1000Genomes | East Asian | Sub | 1008 | G=0.9901 | A=0.0099 |
| 1000Genomes | Europe | Sub | 1006 | G=0.8211 | A=0.1789 |
| 1000Genomes | South Asian | Sub | 978 | G=0.939 | A=0.061 |
| 1000Genomes | American | Sub | 694 | G=0.865 | A=0.135 |
| Genetic variation in the Estonian population | Estonian | Study-wide | 4480 | G=0.8275 | A=0.1725 |
| The Avon Longitudinal Study of Parents and Children | PARENT AND CHILD COHORT | Study-wide | 3854 | G=0.8521 | A=0.1479 |
| UK 10K study - Twins | TWIN COHORT | Study-wide | 3708 | G=0.8412 | A=0.1588 |
| KOREAN population from KRGDB | KOREAN | Study-wide | 2922 | G=0.9966 | A=0.0034 |
| HGDP-CEPH-db Supplement 1 | Global | Study-wide | 2084 | G=0.9146 | A=0.0854 |
| HGDP-CEPH-db Supplement 1 | Est_Asia | Sub | 470 | G=0.989 | A=0.011 |
| HGDP-CEPH-db Supplement 1 | Central_South_Asia | Sub | 414 | G=0.925 | A=0.075 |
| HGDP-CEPH-db Supplement 1 | Middle_Est | Sub | 350 | G=0.869 | A=0.131 |
| HGDP-CEPH-db Supplement 1 | Europe | Sub | 320 | G=0.819 | A=0.181 |
| HGDP-CEPH-db Supplement 1 | Africa | Sub | 242 | G=0.996 | A=0.004 |
| HGDP-CEPH-db Supplement 1 | America | Sub | 216 | G=0.843 | A=0.157 |
| HGDP-CEPH-db Supplement 1 | Oceania | Sub | 72 | G=0.96 | A=0.04 |
| HapMap | Global | Study-wide | 1794 | G=0.9314 | A=0.0686 |
| HapMap | American | Sub | 768 | G=0.900 | A=0.100 |
| HapMap | African | Sub | 684 | G=0.981 | A=0.019 |
| HapMap | Europe | Sub | 174 | G=0.816 | A=0.184 |
| HapMap | Asian | Sub | 168 | G=0.994 | A=0.006 |
| Genome of the Netherlands Release 5 | Genome of the Netherlands | Study-wide | 998 | G=0.844 | A=0.156 |
| A Vietnamese Genetic Variation Database | Global | Study-wide | 614 | G=0.990 | A=0.010 |
| Northern Sweden | ACPOP | Study-wide | 600 | G=0.898 | A=0.102 |
| Medical Genome Project healthy controls from Spanish population | Spanish controls | Study-wide | 534 | G=0.824 | A=0.176 |
| FINRISK | Finnish from FINRISK project | Study-wide | 304 | G=0.875 | A=0.125 |
| Qatari | Global | Study-wide | 216 | G=0.931 | A=0.069 |
| SGDP_PRJ | Global | Study-wide | 94 | G=0.47 | A=0.53 |
| Ancient Sardinia genome-wide 1240k capture data generation and analysis | Global | Study-wide | 68 | G=0.76 | A=0.24 |
| The Danish reference pan genome | Danish | Study-wide | 40 | G=0.85 | A=0.15 |
| Siberian | Global | Study-wide | 14 | G=0.50 | A=0.50 |
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 11 | NC_000011.10:g.101051471G>A |
| GRCh37.p13 chr 11 | NC_000011.9:g.100922202G>A |
| PGR RefSeqGene | NG_016475.1:g.83343C>T |
Gene: PGR, progesterone receptor
(minus strand)
| Molecule type | Change | Amino acid[Codon] | SO Term |
|---|---|---|---|
| PGR transcript variant 2 | NM_000926.4:c.2310C>T | H [CAC] > H [CAT] | Coding Sequence Variant |
| progesterone receptor isoform B | NP_000917.3:p.His770= | H (His) > H (His) | Synonymous Variant |
| PGR transcript variant 1 | NM_001202474.3:c.1818C>T | H [CAC] > H [CAT] | Coding Sequence Variant |
| progesterone receptor isoform A | NP_001189403.1:p.His606= | H (His) > H (His) | Synonymous Variant |
| PGR transcript variant 3 | NM_001271161.2:c.1512C>T | H [CAC] > H [CAT] | Coding Sequence Variant |
| progesterone receptor isoform C | NP_001258090.1:p.His504= | H (His) > H (His) | Synonymous Variant |
| PGR transcript variant 7 | NM_001271162.2:c.528C>T | H [CAC] > H [CAT] | Coding Sequence Variant |
| progesterone receptor isoform D | NP_001258091.1:p.His176= | H (His) > H (His) | Synonymous Variant |
| PGR transcript variant 6 | NR_073143.3:n.2011C>T | N/A | Non Coding Transcript Variant |
| PGR transcript variant 4 | NR_073141.3:n.2317C>T | N/A | Non Coding Transcript Variant |
| PGR transcript variant 5 | NR_073142.3:n.2200C>T | N/A | Non Coding Transcript Variant |
| PGR transcript variant X2 | XM_011542869.3:c. | N/A | Genic Downstream Transcript Variant |
| PGR transcript variant X1 | XM_006718858.4:c.2310C>T | H [CAC] > H [CAT] | Coding Sequence Variant |
| progesterone receptor isoform X1 | XP_006718921.1:p.His770= | H (His) > H (His) | Synonymous 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 | G= | A |
|---|---|---|
| GRCh38.p14 chr 11 | NC_000011.10:g.101051471= | NC_000011.10:g.101051471G>A |
| GRCh37.p13 chr 11 | NC_000011.9:g.100922202= | NC_000011.9:g.100922202G>A |
| PGR RefSeqGene | NG_016475.1:g.83343= | NG_016475.1:g.83343C>T |
| PGR transcript variant 2 | NM_000926.4:c.2310= | NM_000926.4:c.2310C>T |
| PGR transcript variant 1 | NM_001202474.3:c.1818= | NM_001202474.3:c.1818C>T |
| PGR transcript variant 4 | NR_073141.3:n.2317= | NR_073141.3:n.2317C>T |
| PGR transcript variant 4 | NR_073141.2:n.2303= | NR_073141.2:n.2303C>T |
| PGR transcript variant 5 | NR_073142.3:n.2200= | NR_073142.3:n.2200C>T |
| PGR transcript variant 5 | NR_073142.2:n.2186= | NR_073142.2:n.2186C>T |
| PGR transcript variant 6 | NR_073143.3:n.2011= | NR_073143.3:n.2011C>T |
| PGR transcript variant 6 | NR_073143.2:n.1997= | NR_073143.2:n.1997C>T |
| PGR transcript variant 3 | NM_001271161.2:c.1512= | NM_001271161.2:c.1512C>T |
| PGR transcript variant 7 | NM_001271162.2:c.528= | NM_001271162.2:c.528C>T |
| PGR transcript variant 7 | NM_001271162.1:c.528= | NM_001271162.1:c.528C>T |
| PGR transcript variant X1 | XM_006718858.4:c.2310= | XM_006718858.4:c.2310C>T |
| PGR transcript variant X1 | XM_006718858.3:c.2310= | XM_006718858.3:c.2310C>T |
| PGR transcript variant X1 | XM_006718858.2:c.2310= | XM_006718858.2:c.2310C>T |
| PGR transcript variant X1 | XM_006718858.1:c.2310= | XM_006718858.1:c.2310C>T |
| progesterone receptor isoform B | NP_000917.3:p.His770= | NP_000917.3:p.His770= |
| progesterone receptor isoform A | NP_001189403.1:p.His606= | NP_001189403.1:p.His606= |
| progesterone receptor isoform C | NP_001258090.1:p.His504= | NP_001258090.1:p.His504= |
| progesterone receptor isoform D | NP_001258091.1:p.His176= | NP_001258091.1:p.His176= |
| progesterone receptor isoform X1 | XP_006718921.1:p.His770= | XP_006718921.1:p.His770= |
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#.
112 SubSNP,
26 Frequency
submissions
| No | Submitter | Submission ID | Date (Build) |
|---|---|---|---|
| 1 | LEE | ss1510392 | Oct 05, 2000 (86) |
| 2 | UWGC | ss2923988 | Apr 12, 2001 (94) |
| 3 | EGP_SNPS | ss16343493 | Feb 27, 2004 (120) |
| 4 | PERLEGEN | ss24586528 | Sep 20, 2004 (123) |
| 5 | ILLUMINA | ss66600389 | Dec 01, 2006 (127) |
| 6 | EGP_SNPS | ss66858820 | Dec 01, 2006 (127) |
| 7 | ILLUMINA | ss66882772 | Dec 01, 2006 (127) |
| 8 | ILLUMINA | ss66976330 | Dec 01, 2006 (127) |
| 9 | ILLUMINA | ss70365511 | May 17, 2007 (127) |
| 10 | ILLUMINA | ss70478483 | May 24, 2008 (130) |
| 11 | ILLUMINA | ss71001804 | May 17, 2007 (127) |
| 12 | ILLUMINA | ss75477169 | Dec 06, 2007 (129) |
| 13 | KRIBB_YJKIM | ss83672271 | Dec 14, 2007 (130) |
| 14 | CANCER-GENOME | ss86346256 | Mar 23, 2008 (129) |
| 15 | BCMHGSC_JDW | ss88742579 | Mar 23, 2008 (129) |
| 16 | ILLUMINA | ss121304783 | Dec 01, 2009 (131) |
| 17 | ENSEMBL | ss132775735 | Dec 01, 2009 (131) |
| 18 | ILLUMINA | ss152724074 | Dec 01, 2009 (131) |
| 19 | ILLUMINA | ss159123234 | Dec 01, 2009 (131) |
| 20 | COMPLETE_GENOMICS | ss168716843 | Jul 04, 2010 (132) |
| 21 | ILLUMINA | ss169382357 | Jul 04, 2010 (132) |
| 22 | ILLUMINA | ss170067119 | Jul 04, 2010 (132) |
| 23 | COMPLETE_GENOMICS | ss175257815 | Jul 04, 2010 (132) |
| 24 | 1000GENOMES | ss235690580 | Jul 15, 2010 (132) |
| 25 | NHLBI-ESP | ss342338583 | May 09, 2011 (134) |
| 26 | ILLUMINA | ss480768676 | May 04, 2012 (137) |
| 27 | ILLUMINA | ss482701097 | May 04, 2012 (137) |
| 28 | 1000GENOMES | ss491027506 | May 04, 2012 (137) |
| 29 | CLINSEQ_SNP | ss491652801 | May 04, 2012 (137) |
| 30 | ILLUMINA | ss533934228 | Sep 08, 2015 (146) |
| 31 | SSMP | ss658301744 | Apr 25, 2013 (138) |
| 32 | ILLUMINA | ss779488002 | Sep 08, 2015 (146) |
| 33 | ILLUMINA | ss781313446 | Sep 08, 2015 (146) |
| 34 | ILLUMINA | ss825335242 | Apr 01, 2015 (144) |
| 35 | ILLUMINA | ss832635953 | Aug 21, 2014 (142) |
| 36 | ILLUMINA | ss833226642 | Aug 21, 2014 (142) |
| 37 | ILLUMINA | ss834958092 | Sep 08, 2015 (146) |
| 38 | EVA-GONL | ss988886707 | Aug 21, 2014 (142) |
| 39 | JMKIDD_LAB | ss1067527466 | Aug 21, 2014 (142) |
| 40 | JMKIDD_LAB | ss1077989157 | Aug 21, 2014 (142) |
| 41 | 1000GENOMES | ss1342676822 | Aug 21, 2014 (142) |
| 42 | DDI | ss1426738707 | Apr 01, 2015 (144) |
| 43 | EVA_GENOME_DK | ss1575908256 | Apr 01, 2015 (144) |
| 44 | EVA_FINRISK | ss1584077606 | Apr 01, 2015 (144) |
| 45 | EVA_DECODE | ss1598550430 | Apr 01, 2015 (144) |
| 46 | EVA_UK10K_ALSPAC | ss1627307150 | Apr 01, 2015 (144) |
| 47 | EVA_UK10K_TWINSUK | ss1670301183 | Apr 01, 2015 (144) |
| 48 | EVA_EXAC | ss1690601221 | Apr 01, 2015 (144) |
| 49 | EVA_MGP | ss1711306415 | Apr 01, 2015 (144) |
| 50 | EVA_SVP | ss1713279388 | Apr 01, 2015 (144) |
| 51 | WEILL_CORNELL_DGM | ss1932249406 | Feb 12, 2016 (147) |
| 52 | JJLAB | ss2026868566 | Sep 14, 2016 (149) |
| 53 | USC_VALOUEV | ss2155180503 | Dec 20, 2016 (150) |
| 54 | HUMAN_LONGEVITY | ss2185102720 | Dec 20, 2016 (150) |
| 55 | ILLUMINA | ss2632879041 | Nov 08, 2017 (151) |
| 56 | ILLUMINA | ss2635029626 | Nov 08, 2017 (151) |
| 57 | GRF | ss2699484792 | Nov 08, 2017 (151) |
| 58 | GNOMAD | ss2739339050 | Nov 08, 2017 (151) |
| 59 | GNOMAD | ss2748724990 | Nov 08, 2017 (151) |
| 60 | GNOMAD | ss2903637494 | Nov 08, 2017 (151) |
| 61 | SWEGEN | ss3008664947 | Nov 08, 2017 (151) |
| 62 | BIOINF_KMB_FNS_UNIBA | ss3027232739 | Nov 08, 2017 (151) |
| 63 | CSHL | ss3349761180 | Nov 08, 2017 (151) |
| 64 | ILLUMINA | ss3626735092 | Oct 12, 2018 (152) |
| 65 | ILLUMINA | ss3630893745 | Oct 12, 2018 (152) |
| 66 | ILLUMINA | ss3637926454 | Oct 12, 2018 (152) |
| 67 | ILLUMINA | ss3638977111 | Oct 12, 2018 (152) |
| 68 | ILLUMINA | ss3639489680 | Oct 12, 2018 (152) |
| 69 | ILLUMINA | ss3642923290 | Oct 12, 2018 (152) |
| 70 | OMUKHERJEE_ADBS | ss3646431930 | Oct 12, 2018 (152) |
| 71 | EGCUT_WGS | ss3675985579 | Jul 13, 2019 (153) |
| 72 | EVA_DECODE | ss3692460409 | Jul 13, 2019 (153) |
| 73 | ACPOP | ss3738478555 | Jul 13, 2019 (153) |
| 74 | EVA | ss3749722766 | Jul 13, 2019 (153) |
| 75 | PACBIO | ss3787047690 | Jul 13, 2019 (153) |
| 76 | PACBIO | ss3792174950 | Jul 13, 2019 (153) |
| 77 | PACBIO | ss3797057423 | Jul 13, 2019 (153) |
| 78 | KHV_HUMAN_GENOMES | ss3815056756 | Jul 13, 2019 (153) |
| 79 | EVA | ss3824664776 | Apr 26, 2020 (154) |
| 80 | EVA | ss3825807752 | Apr 26, 2020 (154) |
| 81 | EVA | ss3839962144 | Apr 26, 2020 (154) |
| 82 | EVA | ss3845443274 | Apr 26, 2020 (154) |
| 83 | HGDP | ss3847429154 | Apr 26, 2020 (154) |
| 84 | SGDP_PRJ | ss3876990731 | Apr 26, 2020 (154) |
| 85 | KRGDB | ss3925429527 | Apr 26, 2020 (154) |
| 86 | FSA-LAB | ss3984011899 | Apr 26, 2021 (155) |
| 87 | EVA | ss3985552956 | Apr 26, 2021 (155) |
| 88 | EVA | ss3986542659 | Apr 26, 2021 (155) |
| 89 | EVA | ss4017555367 | Apr 26, 2021 (155) |
| 90 | TOPMED | ss4897419677 | Apr 26, 2021 (155) |
| 91 | TOMMO_GENOMICS | ss5203569656 | Apr 26, 2021 (155) |
| 92 | EVA | ss5236898993 | Apr 26, 2021 (155) |
| 93 | EVA | ss5237658283 | Oct 16, 2022 (156) |
| 94 | 1000G_HIGH_COVERAGE | ss5288652044 | Oct 16, 2022 (156) |
| 95 | TRAN_CS_UWATERLOO | ss5314432950 | Oct 16, 2022 (156) |
| 96 | EVA | ss5315572051 | Oct 16, 2022 (156) |
| 97 | EVA | ss5401786201 | Oct 16, 2022 (156) |
| 98 | HUGCELL_USP | ss5483666146 | Oct 16, 2022 (156) |
| 99 | EVA | ss5510492276 | Oct 16, 2022 (156) |
| 100 | 1000G_HIGH_COVERAGE | ss5585007744 | Oct 16, 2022 (156) |
| 101 | EVA | ss5624024917 | Oct 16, 2022 (156) |
| 102 | SANFORD_IMAGENETICS | ss5651930185 | Oct 16, 2022 (156) |
| 103 | TOMMO_GENOMICS | ss5751925816 | Oct 16, 2022 (156) |
| 104 | EVA | ss5799445075 | Oct 16, 2022 (156) |
| 105 | EVA | ss5800063826 | Oct 16, 2022 (156) |
| 106 | YY_MCH | ss5812716144 | Oct 16, 2022 (156) |
| 107 | EVA | ss5837130272 | Oct 16, 2022 (156) |
| 108 | EVA | ss5848335427 | Oct 16, 2022 (156) |
| 109 | EVA | ss5850119851 | Oct 16, 2022 (156) |
| 110 | EVA | ss5921365874 | Oct 16, 2022 (156) |
| 111 | EVA | ss5936550313 | Oct 16, 2022 (156) |
| 112 | EVA | ss5943251538 | Oct 16, 2022 (156) |
| 113 | 1000Genomes | NC_000011.9 - 100922202 | Oct 12, 2018 (152) |
| 114 | 1000Genomes_30x | NC_000011.10 - 101051471 | Oct 16, 2022 (156) |
| 115 | The Avon Longitudinal Study of Parents and Children | NC_000011.9 - 100922202 | Oct 12, 2018 (152) |
| 116 | Genetic variation in the Estonian population | NC_000011.9 - 100922202 | Oct 12, 2018 (152) |
| 117 | ExAC | NC_000011.9 - 100922202 | Oct 12, 2018 (152) |
| 118 | FINRISK | NC_000011.9 - 100922202 | Apr 26, 2020 (154) |
| 119 | The Danish reference pan genome | NC_000011.9 - 100922202 | Apr 26, 2020 (154) |
| 120 | gnomAD - Genomes | NC_000011.10 - 101051471 | Apr 26, 2021 (155) |
| 121 | gnomAD - Exomes | NC_000011.9 - 100922202 | Jul 13, 2019 (153) |
| 122 | GO Exome Sequencing Project | NC_000011.9 - 100922202 | Oct 12, 2018 (152) |
| 123 | Genome of the Netherlands Release 5 | NC_000011.9 - 100922202 | Apr 26, 2020 (154) |
| 124 | HGDP-CEPH-db Supplement 1 | NC_000011.8 - 100427412 | Apr 26, 2020 (154) |
| 125 | HapMap | NC_000011.10 - 101051471 | Apr 26, 2020 (154) |
| 126 | KOREAN population from KRGDB | NC_000011.9 - 100922202 | Apr 26, 2020 (154) |
| 127 | Medical Genome Project healthy controls from Spanish population | NC_000011.9 - 100922202 | Apr 26, 2020 (154) |
| 128 | Northern Sweden | NC_000011.9 - 100922202 | Jul 13, 2019 (153) |
| 129 | Ancient Sardinia genome-wide 1240k capture data generation and analysis | NC_000011.9 - 100922202 | Apr 26, 2021 (155) |
| 130 | Qatari | NC_000011.9 - 100922202 | Apr 26, 2020 (154) |
| 131 | SGDP_PRJ | NC_000011.9 - 100922202 | Apr 26, 2020 (154) |
| 132 | Siberian | NC_000011.9 - 100922202 | Apr 26, 2020 (154) |
| 133 | 8.3KJPN | NC_000011.9 - 100922202 | Apr 26, 2021 (155) |
| 134 | 14KJPN | NC_000011.10 - 101051471 | Oct 16, 2022 (156) |
| 135 | TopMed | NC_000011.10 - 101051471 | Apr 26, 2021 (155) |
| 136 | UK 10K study - Twins | NC_000011.9 - 100922202 | Oct 12, 2018 (152) |
| 137 | A Vietnamese Genetic Variation Database | NC_000011.9 - 100922202 | Jul 13, 2019 (153) |
| 138 | ALFA | NC_000011.10 - 101051471 | 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) |
|---|---|
| rs17729337 | Oct 08, 2004 (123) |
| rs57868993 | May 24, 2008 (130) |
Added to this RefSNP Cluster:
| Submission IDs | Observation SPDI | Canonical SPDI | Source RSIDs |
|---|---|---|---|
| 107046, ss88742579, ss168716843, ss175257815, ss482701097, ss491652801, ss825335242, ss1598550430, ss1713279388, ss2635029626, ss3638977111, ss3639489680, ss3642923290, ss3847429154 | NC_000011.8:100427411:G:A | NC_000011.10:101051470:G:A | (self) |
| 55248069, 30660847, 21723827, 874424, 74067, 2705533, 8556136, 1122324, 13685290, 32606921, 422175, 11763420, 778883, 14291336, 29007711, 7696857, 61538963, 30660847, 6804628, ss235690580, ss342338583, ss480768676, ss491027506, ss533934228, ss658301744, ss779488002, ss781313446, ss832635953, ss833226642, ss834958092, ss988886707, ss1067527466, ss1077989157, ss1342676822, ss1426738707, ss1575908256, ss1584077606, ss1627307150, ss1670301183, ss1690601221, ss1711306415, ss1932249406, ss2026868566, ss2155180503, ss2632879041, ss2699484792, ss2739339050, ss2748724990, ss2903637494, ss3008664947, ss3349761180, ss3626735092, ss3630893745, ss3637926454, ss3646431930, ss3675985579, ss3738478555, ss3749722766, ss3787047690, ss3792174950, ss3797057423, ss3824664776, ss3825807752, ss3839962144, ss3876990731, ss3925429527, ss3984011899, ss3985552956, ss3986542659, ss4017555367, ss5203569656, ss5315572051, ss5401786201, ss5510492276, ss5624024917, ss5651930185, ss5799445075, ss5800063826, ss5837130272, ss5848335427, ss5936550313, ss5943251538 | NC_000011.9:100922201:G:A | NC_000011.10:101051470:G:A | (self) |
| 72533679, 389865345, 682177, 85762920, 112965333, 10792645781, ss2185102720, ss3027232739, ss3692460409, ss3815056756, ss3845443274, ss4897419677, ss5236898993, ss5237658283, ss5288652044, ss5314432950, ss5483666146, ss5585007744, ss5751925816, ss5812716144, ss5850119851, ss5921365874 | NC_000011.10:101051470:G:A | NC_000011.10:101051470:G:A | (self) |
| ss1510392, ss2923988, ss16343493, ss24586528, ss66600389, ss66858820, ss66882772, ss66976330, ss70365511, ss70478483, ss71001804, ss75477169, ss83672271, ss86346256, ss121304783, ss132775735, ss152724074, ss159123234, ss169382357, ss170067119 | NT_033899.8:4484617:G:A | NC_000011.10:101051470:G:A | (self) |
Help
Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.
18
citations for rs1042839
| PMID | Title | Author | Year | Journal |
|---|---|---|---|---|
| 15718480 | Genetic variation in the progesterone receptor gene and ovarian cancer risk. | Terry KL et al. | 2005 | American journal of epidemiology |
| 16126772 | Association between polymorphisms in the progesterone receptor gene and endometriosis. | Treloar SA et al. | 2005 | Molecular human reproduction |
| 17592773 | Progesterone receptor polymorphisms and risk of breast cancer: results from two Australian breast cancer studies. | Johnatty SE et al. | 2008 | Breast cancer research and treatment |
| 18628428 | Polymorphisms in genes involved in sex hormone metabolism, estrogen plus progestin hormone therapy use, and risk of postmenopausal breast cancer. | Diergaarde B et al. | 2008 | Cancer epidemiology, biomarkers & prevention |
| 19382201 | Association of the progesterone receptor gene with endometrial cancer risk in a Chinese population. | Xu WH et al. | 2009 | Cancer |
| 19555469 | A prospective study of androgen levels, hormone-related genes and risk of rheumatoid arthritis. | Karlson EW et al. | 2009 | Arthritis research & therapy |
| 20148360 | Genetic variation in sex-steroid receptors and synthesizing enzymes and colorectal cancer risk in women. | Lin J et al. | 2010 | Cancer causes & control |
| 20547493 | Genetic variation in the progesterone receptor gene and risk of endometrial cancer: a haplotype-based approach. | Lee E et al. | 2010 | Carcinogenesis |
| 21148628 | Progesterone receptor gene variants and risk of endometrial cancer. | O'Mara TA et al. | 2011 | Carcinogenesis |
| 21600550 | Progesterone receptor polymorphisms and clinical response to 17-alpha-hydroxyprogesterone caproate. | Manuck TA et al. | 2011 | American journal of obstetrics and gynecology |
| 21606320 | Genetic associations with sporadic neuroendocrine tumor risk. | Ter-Minassian M et al. | 2011 | Carcinogenesis |
| 21958689 | Genetic variation in the sex hormone metabolic pathway and endometriosis risk: an evaluation of candidate genes. | Trabert B et al. | 2011 | Fertility and sterility |
| 23168575 | Candidate gene linkage approach to identify DNA variants that predispose to preterm birth. | Bream EN et al. | 2013 | Pediatric research |
| 29302853 | Progesterone Receptor (PGR) Gene Variants Associated with Breast Cancer and Associated Features: a Case-Control Study. | Ghali RM et al. | 2020 | Pathology oncology research |
| 34061327 | The correlation of estrogen receptor 1 and progesterone receptor genes polymorphisms with recurrent pregnancy loss in a cohort of Egyptian women. | Refeat MM et al. | 2021 | Molecular biology reports |
| 34626148 | Effect of steroid hormone receptor gene variants PROGINS (Alu insertion) and PGR C/T (rs1042839) as a risk factor for recurrent pregnancy loss in Kashmiri population (North India). | Khan N et al. | 2021 | The journal of obstetrics and gynaecology research |
| 35178856 | Progesterone receptor genetic variants in pregnant women and fetuses as possible predictors of spontaneous premature birth: A preliminary case-control study. | Kadivnik M et al. | 2022 | The journal of obstetrics and gynaecology research |
| 35848345 | Sex hormone-related polymorphisms in endometriosis and migraine: A narrative review. | van der Vaart JF et al. | 2022 | Women's health (London, England) |
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.