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.
rs1434536
Current Build 156
Released September 21, 2022
- Organism
- Homo sapiens
- Position
-
chr4:95154814 (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>T
- Variation Type
- SNV Single Nucleotide Variation
- Frequency
-
C=0.463203 (126574/273258, ALFA)T=0.450410 (119219/264690, TOPMED)T=0.452766 (63389/140004, GnomAD) (+ 20 more)
- Clinical Significance
- Reported in ClinVar
- Gene : Consequence
- BMPR1B : 3 Prime UTR Variant
- Publications
- 22 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 | 273470 | C=0.463195 | T=0.536805 |
| European | Sub | 235140 | C=0.449707 | T=0.550293 |
| African | Sub | 8050 | C=0.7758 | T=0.2242 |
| African Others | Sub | 296 | C=0.848 | T=0.152 |
| African American | Sub | 7754 | C=0.7730 | T=0.2270 |
| Asian | Sub | 6804 | C=0.6041 | T=0.3959 |
| East Asian | Sub | 4880 | C=0.5953 | T=0.4047 |
| Other Asian | Sub | 1924 | C=0.6263 | T=0.3737 |
| Latin American 1 | Sub | 1042 | C=0.5211 | T=0.4789 |
| Latin American 2 | Sub | 6650 | C=0.3441 | T=0.6559 |
| South Asian | Sub | 366 | C=0.549 | T=0.451 |
| Other | Sub | 15418 | C=0.48897 | T=0.51103 |
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 |
|---|---|---|---|---|---|
| Allele Frequency Aggregator | Total | Global | 273258 | C=0.463203 | T=0.536797 |
| Allele Frequency Aggregator | European | Sub | 234962 | C=0.449707 | T=0.550293 |
| Allele Frequency Aggregator | Other | Sub | 15398 | C=0.48909 | T=0.51091 |
| Allele Frequency Aggregator | African | Sub | 8036 | C=0.7761 | T=0.2239 |
| Allele Frequency Aggregator | Asian | Sub | 6804 | C=0.6041 | T=0.3959 |
| Allele Frequency Aggregator | Latin American 2 | Sub | 6650 | C=0.3441 | T=0.6559 |
| Allele Frequency Aggregator | Latin American 1 | Sub | 1042 | C=0.5211 | T=0.4789 |
| Allele Frequency Aggregator | South Asian | Sub | 366 | C=0.549 | T=0.451 |
| TopMed | Global | Study-wide | 264690 | C=0.549590 | T=0.450410 |
| gnomAD - Genomes | Global | Study-wide | 140004 | C=0.547234 | T=0.452766 |
| gnomAD - Genomes | European | Sub | 75836 | C=0.45171 | T=0.54829 |
| gnomAD - Genomes | African | Sub | 41946 | C=0.77247 | T=0.22753 |
| gnomAD - Genomes | American | Sub | 13622 | C=0.40846 | T=0.59154 |
| gnomAD - Genomes | Ashkenazi Jewish | Sub | 3324 | C=0.4043 | T=0.5957 |
| gnomAD - Genomes | East Asian | Sub | 3124 | C=0.6152 | T=0.3848 |
| gnomAD - Genomes | Other | Sub | 2152 | C=0.5237 | T=0.4763 |
| The PAGE Study | Global | Study-wide | 78696 | C=0.61295 | T=0.38705 |
| The PAGE Study | AfricanAmerican | Sub | 32514 | C=0.76785 | T=0.23215 |
| The PAGE Study | Mexican | Sub | 10808 | C=0.35011 | T=0.64989 |
| The PAGE Study | Asian | Sub | 8318 | C=0.6232 | T=0.3768 |
| The PAGE Study | PuertoRican | Sub | 7916 | C=0.5164 | T=0.4836 |
| The PAGE Study | NativeHawaiian | Sub | 4534 | C=0.6498 | T=0.3502 |
| The PAGE Study | Cuban | Sub | 4230 | C=0.4946 | T=0.5054 |
| The PAGE Study | Dominican | Sub | 3828 | C=0.6053 | T=0.3947 |
| The PAGE Study | CentralAmerican | Sub | 2450 | C=0.3959 | T=0.6041 |
| The PAGE Study | SouthAmerican | Sub | 1982 | C=0.4011 | T=0.5989 |
| The PAGE Study | NativeAmerican | Sub | 1260 | C=0.4698 | T=0.5302 |
| The PAGE Study | SouthAsian | Sub | 856 | C=0.588 | T=0.412 |
| 14KJPN | JAPANESE | Study-wide | 28258 | C=0.61795 | T=0.38205 |
| 8.3KJPN | JAPANESE | Study-wide | 16760 | C=0.61927 | T=0.38073 |
| 1000Genomes_30x | Global | Study-wide | 6404 | C=0.5976 | T=0.4024 |
| 1000Genomes_30x | African | Sub | 1786 | C=0.8147 | T=0.1853 |
| 1000Genomes_30x | Europe | Sub | 1266 | C=0.4423 | T=0.5577 |
| 1000Genomes_30x | South Asian | Sub | 1202 | C=0.5790 | T=0.4210 |
| 1000Genomes_30x | East Asian | Sub | 1170 | C=0.6137 | T=0.3863 |
| 1000Genomes_30x | American | Sub | 980 | C=0.406 | T=0.594 |
| 1000Genomes | Global | Study-wide | 5008 | C=0.5958 | T=0.4042 |
| 1000Genomes | African | Sub | 1322 | C=0.8177 | T=0.1823 |
| 1000Genomes | East Asian | Sub | 1008 | C=0.6171 | T=0.3829 |
| 1000Genomes | Europe | Sub | 1006 | C=0.4414 | T=0.5586 |
| 1000Genomes | South Asian | Sub | 978 | C=0.570 | T=0.430 |
| 1000Genomes | American | Sub | 694 | C=0.403 | T=0.597 |
| Genetic variation in the Estonian population | Estonian | Study-wide | 4480 | C=0.4810 | T=0.5190 |
| The Avon Longitudinal Study of Parents and Children | PARENT AND CHILD COHORT | Study-wide | 3854 | C=0.4398 | T=0.5602 |
| UK 10K study - Twins | TWIN COHORT | Study-wide | 3708 | C=0.4420 | T=0.5580 |
| KOREAN population from KRGDB | KOREAN | Study-wide | 2930 | C=0.6010 | T=0.3990 |
| HapMap | Global | Study-wide | 1888 | C=0.6255 | T=0.3745 |
| HapMap | American | Sub | 770 | C=0.566 | T=0.434 |
| HapMap | African | Sub | 690 | C=0.749 | T=0.251 |
| HapMap | Asian | Sub | 252 | C=0.627 | T=0.373 |
| HapMap | Europe | Sub | 176 | C=0.398 | T=0.602 |
| Korean Genome Project | KOREAN | Study-wide | 1832 | C=0.6114 | T=0.3886 |
| Genome of the Netherlands Release 5 | Genome of the Netherlands | Study-wide | 998 | C=0.440 | T=0.560 |
| CNV burdens in cranial meningiomas | Global | Study-wide | 792 | C=0.626 | T=0.374 |
| CNV burdens in cranial meningiomas | CRM | Sub | 792 | C=0.626 | T=0.374 |
| Northern Sweden | ACPOP | Study-wide | 600 | C=0.480 | T=0.520 |
| Medical Genome Project healthy controls from Spanish population | Spanish controls | Study-wide | 534 | C=0.790 | T=0.210 |
| SGDP_PRJ | Global | Study-wide | 360 | C=0.333 | T=0.667 |
| Qatari | Global | Study-wide | 216 | C=0.389 | T=0.611 |
| A Vietnamese Genetic Variation Database | Global | Study-wide | 206 | C=0.481 | T=0.519 |
| The Danish reference pan genome | Danish | Study-wide | 40 | C=0.33 | T=0.68 |
| Siberian | Global | Study-wide | 30 | C=0.47 | T=0.53 |
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 4 | NC_000004.12:g.95154814C>T |
| GRCh37.p13 chr 4 | NC_000004.11:g.96075965C>T |
| BMPR1B RefSeqGene | NG_009245.1:g.401838C>T |
Gene: BMPR1B, bone morphogenetic protein receptor type 1B
(plus strand)
| Molecule type | Change | Amino acid[Codon] | SO Term |
|---|---|---|---|
| BMPR1B transcript variant 4 | NM_001256794.1:c.*141= | N/A | 3 Prime UTR Variant |
| BMPR1B transcript variant 2 | NM_001203.3:c.*141= | N/A | 3 Prime UTR Variant |
| BMPR1B transcript variant 1 | NM_001256793.2:c.*141= | N/A | 3 Prime UTR Variant |
| BMPR1B transcript variant 3 | NM_001256792.2:c.*141= | N/A | 3 Prime UTR Variant |
| BMPR1B transcript variant X1 | XM_047416091.1:c.*141= | N/A | 3 Prime UTR Variant |
| BMPR1B transcript variant X2 | XM_017008558.2:c.*141= | N/A | 3 Prime UTR Variant |
| BMPR1B transcript variant X3 | XM_017008559.2:c.*141= | N/A | 3 Prime UTR Variant |
| BMPR1B transcript variant X4 | XM_017008560.2:c.*141= | N/A | 3 Prime UTR Variant |
| BMPR1B transcript variant X5 | XM_047416093.1:c.*141= | N/A | 3 Prime UTR Variant |
| BMPR1B transcript variant X6 | XM_047416094.1:c.*141= | N/A | 3 Prime UTR Variant |
| BMPR1B transcript variant X7 | XM_011532201.3:c.*141= | N/A | 3 Prime UTR Variant |
| BMPR1B transcript variant X8 | XM_047416095.1:c.*141= | N/A | 3 Prime UTR 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.
Allele: T (allele ID:
296235
)
| ClinVar Accession | Disease Names | Clinical Significance |
|---|---|---|
| RCV000273899.3 | Brachydactyly | Benign |
| RCV000639570.6 | Acromesomelic dysplasia 3,Brachydactyly type A2 | Benign |
| RCV001723951.1 | not provided | Benign |
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= | T |
|---|---|---|
| GRCh38.p14 chr 4 | NC_000004.12:g.95154814= | NC_000004.12:g.95154814C>T |
| GRCh37.p13 chr 4 | NC_000004.11:g.96075965= | NC_000004.11:g.96075965C>T |
| BMPR1B RefSeqGene | NG_009245.1:g.401838= | NG_009245.1:g.401838C>T |
| BMPR1B transcript variant 2 | NM_001203.3:c.*141= | NM_001203.3:c.*141C>T |
| BMPR1B transcript variant 2 | NM_001203.2:c.*141= | NM_001203.2:c.*141C>T |
| BMPR1B transcript variant 3 | NM_001256792.2:c.*141= | NM_001256792.2:c.*141C>T |
| BMPR1B transcript variant 3 | NM_001256792.1:c.*141= | NM_001256792.1:c.*141C>T |
| BMPR1B transcript variant 1 | NM_001256793.2:c.*141= | NM_001256793.2:c.*141C>T |
| BMPR1B transcript variant 1 | NM_001256793.1:c.*141= | NM_001256793.1:c.*141C>T |
| BMPR1B transcript variant 4 | NM_001256794.1:c.*141= | NM_001256794.1:c.*141C>T |
| BMPR1B transcript variant X7 | XM_011532201.3:c.*141= | XM_011532201.3:c.*141C>T |
| BMPR1B transcript variant X5 | XM_011532201.2:c.*141= | XM_011532201.2:c.*141C>T |
| BMPR1B transcript variant X1 | XM_011532201.1:c.*141= | XM_011532201.1:c.*141C>T |
| BMPR1B transcript variant X3 | XM_017008559.2:c.*141= | XM_017008559.2:c.*141C>T |
| BMPR1B transcript variant X2 | XM_017008559.1:c.*141= | XM_017008559.1:c.*141C>T |
| BMPR1B transcript variant X2 | XM_017008558.2:c.*141= | XM_017008558.2:c.*141C>T |
| BMPR1B transcript variant X1 | XM_017008558.1:c.*141= | XM_017008558.1:c.*141C>T |
| BMPR1B transcript variant X4 | XM_017008560.2:c.*141= | XM_017008560.2:c.*141C>T |
| BMPR1B transcript variant X3 | XM_017008560.1:c.*141= | XM_017008560.1:c.*141C>T |
| BMPR1B transcript variant X8 | XM_047416095.1:c.*141= | XM_047416095.1:c.*141C>T |
| BMPR1B transcript variant X1 | XM_047416091.1:c.*141= | XM_047416091.1:c.*141C>T |
| BMPR1B transcript variant X5 | XM_047416093.1:c.*141= | XM_047416093.1:c.*141C>T |
| BMPR1B transcript variant X6 | XM_047416094.1:c.*141= | XM_047416094.1:c.*141C>T |
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#.
140 SubSNP,
23 Frequency,
3 ClinVar
submissions
| No | Submitter | Submission ID | Date (Build) |
|---|---|---|---|
| 1 | TSC-CSHL | ss2244470 | Oct 23, 2000 (88) |
| 2 | PERLEGEN | ss24340554 | Sep 20, 2004 (123) |
| 3 | ABI | ss44504352 | Mar 14, 2006 (126) |
| 4 | ILLUMINA | ss65740815 | Oct 15, 2006 (127) |
| 5 | ILLUMINA | ss74891727 | Dec 06, 2007 (129) |
| 6 | HGSV | ss77481242 | Dec 06, 2007 (129) |
| 7 | HGSV | ss78346112 | Dec 06, 2007 (129) |
| 8 | HUMANGENOME_JCVI | ss98983253 | Feb 06, 2009 (130) |
| 9 | BGI | ss104096593 | Dec 01, 2009 (131) |
| 10 | KRIBB_YJKIM | ss104796833 | Feb 06, 2009 (130) |
| 11 | 1000GENOMES | ss108151244 | Jan 23, 2009 (130) |
| 12 | KRIBB_YJKIM | ss119392530 | Dec 01, 2009 (131) |
| 13 | ENSEMBL | ss143481520 | Dec 01, 2009 (131) |
| 14 | ILLUMINA | ss160352901 | Dec 01, 2009 (131) |
| 15 | COMPLETE_GENOMICS | ss162356035 | Jul 04, 2010 (132) |
| 16 | COMPLETE_GENOMICS | ss166918214 | Jul 04, 2010 (132) |
| 17 | ILLUMINA | ss172499002 | Jul 04, 2010 (132) |
| 18 | BUSHMAN | ss198883260 | Jul 04, 2010 (132) |
| 19 | BCM-HGSC-SUB | ss206628235 | Jul 04, 2010 (132) |
| 20 | 1000GENOMES | ss211454420 | Jul 14, 2010 (132) |
| 21 | 1000GENOMES | ss221082375 | Jul 14, 2010 (132) |
| 22 | 1000GENOMES | ss232503595 | Jul 14, 2010 (132) |
| 23 | 1000GENOMES | ss239771895 | Jul 15, 2010 (132) |
| 24 | BL | ss253350773 | May 09, 2011 (134) |
| 25 | GMI | ss277834208 | May 04, 2012 (137) |
| 26 | GMI | ss284962295 | Apr 25, 2013 (138) |
| 27 | PJP | ss293141569 | May 09, 2011 (134) |
| 28 | ILLUMINA | ss479973343 | May 04, 2012 (137) |
| 29 | ILLUMINA | ss479981933 | May 04, 2012 (137) |
| 30 | ILLUMINA | ss480629508 | Sep 08, 2015 (146) |
| 31 | ILLUMINA | ss484784903 | May 04, 2012 (137) |
| 32 | EXOME_CHIP | ss491358731 | May 04, 2012 (137) |
| 33 | ILLUMINA | ss536871185 | Sep 08, 2015 (146) |
| 34 | TISHKOFF | ss557702418 | Apr 25, 2013 (138) |
| 35 | SSMP | ss651507187 | Apr 25, 2013 (138) |
| 36 | ILLUMINA | ss778432173 | Aug 21, 2014 (142) |
| 37 | ILLUMINA | ss780802603 | Sep 08, 2015 (146) |
| 38 | ILLUMINA | ss782839115 | Aug 21, 2014 (142) |
| 39 | ILLUMINA | ss783484071 | Sep 08, 2015 (146) |
| 40 | ILLUMINA | ss783803812 | Aug 21, 2014 (142) |
| 41 | ILLUMINA | ss832092773 | Apr 01, 2015 (144) |
| 42 | ILLUMINA | ss833887645 | Aug 21, 2014 (142) |
| 43 | EVA-GONL | ss980416913 | Aug 21, 2014 (142) |
| 44 | JMKIDD_LAB | ss1071763816 | Aug 21, 2014 (142) |
| 45 | 1000GENOMES | ss1310865871 | Aug 21, 2014 (142) |
| 46 | DDI | ss1429973734 | Apr 01, 2015 (144) |
| 47 | EVA_GENOME_DK | ss1580674749 | Apr 01, 2015 (144) |
| 48 | EVA_DECODE | ss1589920173 | Apr 01, 2015 (144) |
| 49 | EVA_UK10K_ALSPAC | ss1610673550 | Apr 01, 2015 (144) |
| 50 | EVA_UK10K_TWINSUK | ss1653667583 | Apr 01, 2015 (144) |
| 51 | EVA_MGP | ss1711066785 | Apr 01, 2015 (144) |
| 52 | EVA_SVP | ss1712691215 | Apr 01, 2015 (144) |
| 53 | ILLUMINA | ss1752538135 | Sep 08, 2015 (146) |
| 54 | ILLUMINA | ss1752538136 | Sep 08, 2015 (146) |
| 55 | HAMMER_LAB | ss1801869466 | Sep 08, 2015 (146) |
| 56 | ILLUMINA | ss1917783032 | Feb 12, 2016 (147) |
| 57 | WEILL_CORNELL_DGM | ss1923658666 | Feb 12, 2016 (147) |
| 58 | ILLUMINA | ss1946122531 | Feb 12, 2016 (147) |
| 59 | ILLUMINA | ss1958705131 | Feb 12, 2016 (147) |
| 60 | GENOMED | ss1969809968 | Jul 19, 2016 (147) |
| 61 | JJLAB | ss2022414268 | Sep 14, 2016 (149) |
| 62 | USC_VALOUEV | ss2150543711 | Dec 20, 2016 (150) |
| 63 | HUMAN_LONGEVITY | ss2265183814 | Dec 20, 2016 (150) |
| 64 | SYSTEMSBIOZJU | ss2625708310 | Nov 08, 2017 (151) |
| 65 | ILLUMINA | ss2634151459 | Nov 08, 2017 (151) |
| 66 | GRF | ss2706021471 | Nov 08, 2017 (151) |
| 67 | GNOMAD | ss2812524005 | Nov 08, 2017 (151) |
| 68 | AFFY | ss2985298404 | Nov 08, 2017 (151) |
| 69 | SWEGEN | ss2995161338 | Nov 08, 2017 (151) |
| 70 | ILLUMINA | ss3022396622 | Nov 08, 2017 (151) |
| 71 | BIOINF_KMB_FNS_UNIBA | ss3024982619 | Nov 08, 2017 (151) |
| 72 | CSHL | ss3345848036 | Nov 08, 2017 (151) |
| 73 | ILLUMINA | ss3629020148 | Oct 12, 2018 (152) |
| 74 | ILLUMINA | ss3629020149 | Oct 12, 2018 (152) |
| 75 | ILLUMINA | ss3632085993 | Oct 12, 2018 (152) |
| 76 | ILLUMINA | ss3633342496 | Oct 12, 2018 (152) |
| 77 | ILLUMINA | ss3634061774 | Oct 12, 2018 (152) |
| 78 | ILLUMINA | ss3634962473 | Oct 12, 2018 (152) |
| 79 | ILLUMINA | ss3634962474 | Oct 12, 2018 (152) |
| 80 | ILLUMINA | ss3635744521 | Oct 12, 2018 (152) |
| 81 | ILLUMINA | ss3636666597 | Oct 12, 2018 (152) |
| 82 | ILLUMINA | ss3637497052 | Oct 12, 2018 (152) |
| 83 | ILLUMINA | ss3638500270 | Oct 12, 2018 (152) |
| 84 | ILLUMINA | ss3640669767 | Oct 12, 2018 (152) |
| 85 | ILLUMINA | ss3640669768 | Oct 12, 2018 (152) |
| 86 | ILLUMINA | ss3643450586 | Oct 12, 2018 (152) |
| 87 | ILLUMINA | ss3644855327 | Oct 12, 2018 (152) |
| 88 | OMUKHERJEE_ADBS | ss3646310501 | Oct 12, 2018 (152) |
| 89 | URBANLAB | ss3647795131 | Oct 12, 2018 (152) |
| 90 | ILLUMINA | ss3652882782 | Oct 12, 2018 (152) |
| 91 | ILLUMINA | ss3654070183 | Oct 12, 2018 (152) |
| 92 | EGCUT_WGS | ss3663054151 | Jul 13, 2019 (153) |
| 93 | EVA_DECODE | ss3712599800 | Jul 13, 2019 (153) |
| 94 | ILLUMINA | ss3726153899 | Jul 13, 2019 (153) |
| 95 | ACPOP | ss3731396128 | Jul 13, 2019 (153) |
| 96 | ILLUMINA | ss3744528013 | Jul 13, 2019 (153) |
| 97 | ILLUMINA | ss3745262746 | Jul 13, 2019 (153) |
| 98 | ILLUMINA | ss3745262747 | Jul 13, 2019 (153) |
| 99 | EVA | ss3762135223 | Jul 13, 2019 (153) |
| 100 | PAGE_CC | ss3771141188 | Jul 13, 2019 (153) |
| 101 | ILLUMINA | ss3772757289 | Jul 13, 2019 (153) |
| 102 | ILLUMINA | ss3772757290 | Jul 13, 2019 (153) |
| 103 | PACBIO | ss3784794038 | Jul 13, 2019 (153) |
| 104 | PACBIO | ss3790239849 | Jul 13, 2019 (153) |
| 105 | PACBIO | ss3795115238 | Jul 13, 2019 (153) |
| 106 | KHV_HUMAN_GENOMES | ss3805281058 | Jul 13, 2019 (153) |
| 107 | EVA | ss3825661365 | Apr 26, 2020 (154) |
| 108 | EVA | ss3828688259 | Apr 26, 2020 (154) |
| 109 | EVA | ss3837784448 | Apr 26, 2020 (154) |
| 110 | EVA | ss3843222627 | Apr 26, 2020 (154) |
| 111 | SGDP_PRJ | ss3859551266 | Apr 26, 2020 (154) |
| 112 | KRGDB | ss3905828195 | Apr 26, 2020 (154) |
| 113 | KOGIC | ss3954693088 | Apr 26, 2020 (154) |
| 114 | FSA-LAB | ss3984289568 | Apr 26, 2021 (155) |
| 115 | FSA-LAB | ss3984289569 | Apr 26, 2021 (155) |
| 116 | EVA | ss3984531903 | Apr 26, 2021 (155) |
| 117 | EVA | ss3986286863 | Apr 26, 2021 (155) |
| 118 | EVA | ss4017158231 | Apr 26, 2021 (155) |
| 119 | TOPMED | ss4623614360 | Apr 26, 2021 (155) |
| 120 | TOMMO_GENOMICS | ss5166957419 | Apr 26, 2021 (155) |
| 121 | 1000G_HIGH_COVERAGE | ss5260188904 | Oct 17, 2022 (156) |
| 122 | EVA | ss5314975850 | Oct 17, 2022 (156) |
| 123 | EVA | ss5350792534 | Oct 17, 2022 (156) |
| 124 | HUGCELL_USP | ss5458842351 | Oct 17, 2022 (156) |
| 125 | EVA | ss5507627601 | Oct 17, 2022 (156) |
| 126 | 1000G_HIGH_COVERAGE | ss5541799284 | Oct 17, 2022 (156) |
| 127 | EVA | ss5624141209 | Oct 17, 2022 (156) |
| 128 | SANFORD_IMAGENETICS | ss5635606353 | Oct 17, 2022 (156) |
| 129 | TOMMO_GENOMICS | ss5701653828 | Oct 17, 2022 (156) |
| 130 | EVA | ss5799621538 | Oct 17, 2022 (156) |
| 131 | EVA | ss5800116913 | Oct 17, 2022 (156) |
| 132 | YY_MCH | ss5805330698 | Oct 17, 2022 (156) |
| 133 | EVA | ss5844382011 | Oct 17, 2022 (156) |
| 134 | EVA | ss5848018615 | Oct 17, 2022 (156) |
| 135 | EVA | ss5848613375 | Oct 17, 2022 (156) |
| 136 | EVA | ss5854343309 | Oct 17, 2022 (156) |
| 137 | EVA | ss5864564826 | Oct 17, 2022 (156) |
| 138 | EVA | ss5963994532 | Oct 17, 2022 (156) |
| 139 | EVA | ss5980238906 | Oct 17, 2022 (156) |
| 140 | EVA | ss5981223717 | Oct 17, 2022 (156) |
| 141 | 1000Genomes | NC_000004.11 - 96075965 | Oct 12, 2018 (152) |
| 142 | 1000Genomes_30x | NC_000004.12 - 95154814 | Oct 17, 2022 (156) |
| 143 | The Avon Longitudinal Study of Parents and Children | NC_000004.11 - 96075965 | Oct 12, 2018 (152) |
| 144 | Genetic variation in the Estonian population | NC_000004.11 - 96075965 | Oct 12, 2018 (152) |
| 145 | The Danish reference pan genome | NC_000004.11 - 96075965 | Apr 26, 2020 (154) |
| 146 | gnomAD - Genomes | NC_000004.12 - 95154814 | Apr 26, 2021 (155) |
| 147 | Genome of the Netherlands Release 5 | NC_000004.11 - 96075965 | Apr 26, 2020 (154) |
| 148 | HapMap | NC_000004.12 - 95154814 | Apr 26, 2020 (154) |
| 149 | KOREAN population from KRGDB | NC_000004.11 - 96075965 | Apr 26, 2020 (154) |
| 150 | Korean Genome Project | NC_000004.12 - 95154814 | Apr 26, 2020 (154) |
| 151 | Medical Genome Project healthy controls from Spanish population | NC_000004.11 - 96075965 | Apr 26, 2020 (154) |
| 152 | Northern Sweden | NC_000004.11 - 96075965 | Jul 13, 2019 (153) |
| 153 | The PAGE Study | NC_000004.12 - 95154814 | Jul 13, 2019 (153) |
| 154 | CNV burdens in cranial meningiomas | NC_000004.11 - 96075965 | Apr 26, 2021 (155) |
| 155 | Qatari | NC_000004.11 - 96075965 | Apr 26, 2020 (154) |
| 156 | SGDP_PRJ | NC_000004.11 - 96075965 | Apr 26, 2020 (154) |
| 157 | Siberian | NC_000004.11 - 96075965 | Apr 26, 2020 (154) |
| 158 | 8.3KJPN | NC_000004.11 - 96075965 | Apr 26, 2021 (155) |
| 159 | 14KJPN | NC_000004.12 - 95154814 | Oct 17, 2022 (156) |
| 160 | TopMed | NC_000004.12 - 95154814 | Apr 26, 2021 (155) |
| 161 | UK 10K study - Twins | NC_000004.11 - 96075965 | Oct 12, 2018 (152) |
| 162 | A Vietnamese Genetic Variation Database | NC_000004.11 - 96075965 | Jul 13, 2019 (153) |
| 163 | ALFA | NC_000004.12 - 95154814 | Apr 26, 2021 (155) |
| 164 | ClinVar | RCV000273899.3 | Oct 17, 2022 (156) |
| 165 | ClinVar | RCV000639570.6 | Oct 17, 2022 (156) |
| 166 | ClinVar | RCV001723951.1 | Oct 17, 2022 (156) |
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) |
|---|---|
| rs17414957 | Oct 07, 2004 (123) |
| rs386531743 | Aug 21, 2014 (142) |
Added to this RefSNP Cluster:
| Submission IDs | Observation SPDI | Canonical SPDI | Source RSIDs |
|---|---|---|---|
| ss77481242, ss78346112 | NC_000004.9:96433142:C:T | NC_000004.12:95154813:C:T | (self) |
| ss108151244, ss162356035, ss166918214, ss198883260, ss206628235, ss211454420, ss253350773, ss277834208, ss284962295, ss293141569, ss479973343, ss1589920173, ss1712691215, ss3643450586 | NC_000004.10:96294987:C:T | NC_000004.12:95154813:C:T | (self) |
| 22303832, 12404026, 8792399, 6839688, 5481064, 13005589, 182545, 4680993, 81263, 5700596, 11568246, 3060065, 24926726, 12404026, 2730026, ss221082375, ss232503595, ss239771895, ss479981933, ss480629508, ss484784903, ss491358731, ss536871185, ss557702418, ss651507187, ss778432173, ss780802603, ss782839115, ss783484071, ss783803812, ss832092773, ss833887645, ss980416913, ss1071763816, ss1310865871, ss1429973734, ss1580674749, ss1610673550, ss1653667583, ss1711066785, ss1752538135, ss1752538136, ss1801869466, ss1917783032, ss1923658666, ss1946122531, ss1958705131, ss1969809968, ss2022414268, ss2150543711, ss2625708310, ss2634151459, ss2706021471, ss2812524005, ss2985298404, ss2995161338, ss3022396622, ss3345848036, ss3629020148, ss3629020149, ss3632085993, ss3633342496, ss3634061774, ss3634962473, ss3634962474, ss3635744521, ss3636666597, ss3637497052, ss3638500270, ss3640669767, ss3640669768, ss3644855327, ss3646310501, ss3652882782, ss3654070183, ss3663054151, ss3731396128, ss3744528013, ss3745262746, ss3745262747, ss3762135223, ss3772757289, ss3772757290, ss3784794038, ss3790239849, ss3795115238, ss3825661365, ss3828688259, ss3837784448, ss3859551266, ss3905828195, ss3984289568, ss3984289569, ss3984531903, ss3986286863, ss4017158231, ss5166957419, ss5314975850, ss5350792534, ss5507627601, ss5624141209, ss5635606353, ss5799621538, ss5800116913, ss5844382011, ss5848018615, ss5848613375, ss5963994532, ss5980238906, ss5981223717 | NC_000004.11:96075964:C:T | NC_000004.12:95154813:C:T | (self) |
| RCV000273899.3, RCV000639570.6, RCV001723951.1, 29325219, 157985050, 2665026, 11071089, 362657, 35490932, 460991916, 15609614873, ss2265183814, ss3024982619, ss3647795131, ss3712599800, ss3726153899, ss3771141188, ss3805281058, ss3843222627, ss3954693088, ss4623614360, ss5260188904, ss5458842351, ss5541799284, ss5701653828, ss5805330698, ss5854343309, ss5864564826 | NC_000004.12:95154813:C:T | NC_000004.12:95154813:C:T | (self) |
| ss2244470, ss24340554, ss44504352, ss65740815, ss74891727, ss98983253, ss104096593, ss104796833, ss119392530, ss143481520, ss160352901, ss172499002 | NT_016354.19:20623685:C:T | NC_000004.12:95154813: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.
22
citations for rs1434536
| PMID | Title | Author | Year | Journal |
|---|---|---|---|---|
| 19453261 | High-density association study of 383 candidate genes for volumetric BMD at the femoral neck and lumbar spine among older men. | Yerges LM et al. | 2009 | Journal of bone and mineral research |
| 19738052 | A risk variant in an miR-125b binding site in BMPR1B is associated with breast cancer pathogenesis. | Saetrom P et al. | 2009 | Cancer research |
| 20357209 | Molecular genetic studies of gene identification for osteoporosis: the 2009 update. | Xu XH et al. | 2010 | Endocrine reviews |
| 20495573 | Genetic variation in microRNA networks: the implications for cancer research. | Ryan BM et al. | 2010 | Nature reviews. Cancer |
| 20688557 | The Yin and Yang of bone morphogenetic proteins in cancer. | Singh A et al. | 2010 | Cytokine & growth factor reviews |
| 20843204 | MicroRNA binding site polymorphisms as biomarkers of cancer risk. | Pelletier C et al. | 2010 | Expert review of molecular diagnostics |
| 21556765 | A miR-125b binding site polymorphism in bone morphogenetic protein membrane receptor type IB gene and prostate cancer risk in China. | Feng N et al. | 2012 | Molecular biology reports |
| 21692980 | Genetic polymorphisms and microRNAs: new direction in molecular epidemiology of solid cancer. | Slaby O et al. | 2012 | Journal of cellular and molecular medicine |
| 21693556 | Inferring causative variants in microRNA target sites. | Thomas LF et al. | 2011 | Nucleic acids research |
| 21910715 | MYH9 and APOL1 are both associated with sickle cell disease nephropathy. | Ashley-Koch AE et al. | 2011 | British journal of haematology |
| 21995669 | A genome-wide survey for SNPs altering microRNA seed sites identifies functional candidates in GWAS. | Richardson K et al. | 2011 | BMC genomics |
| 23091610 | Integrative analysis of somatic mutations altering microRNA targeting in cancer genomes. | Ziebarth JD et al. | 2012 | PloS one |
| 23173617 | MirSNP, a database of polymorphisms altering miRNA target sites, identifies miRNA-related SNPs in GWAS SNPs and eQTLs. | Liu C et al. | 2012 | BMC genomics |
| 23614619 | SNPs in microRNA binding sites as prognostic and predictive cancer biomarkers. | Preskill C et al. | 2013 | Critical reviews in oncogenesis |
| 24629096 | mrSNP: software to detect SNP effects on microRNA binding. | Deveci M et al. | 2014 | BMC bioinformatics |
| 25114582 | MicroRNA binding site polymorphisms as biomarkers in cancer management and research. | Cipollini M et al. | 2014 | Pharmacogenomics and personalized medicine |
| 26190157 | Evaluation the susceptibility of five polymorphisms in microRNA-binding sites to female breast cancer risk in Chinese population. | He BS et al. | 2015 | Gene |
| 27222754 | Association between single nucleotide polymorphism in miR-499, miR-196a2, miR-146a and miR-149 and prostate cancer risk in a sample of Iranian population. | Hashemi M et al. | 2016 | Journal of advanced research |
| 27853382 | Genetic variation rs7930 in the miR-4273-5p target site is associated with a risk of colorectal cancer. | Lee AR et al. | 2016 | OncoTargets and therapy |
| 31637880 | MicroRNA-binding site polymorphisms and risk of colorectal cancer: A systematic review and meta-analysis. | Gholami M et al. | 2019 | Cancer medicine |
| 33596578 | Polymorphisms in MicroRNA Target Sites of TGF-β Signaling Pathway Genes and Susceptibility to Allergic Rhinitis. | Chen RX et al. | 2021 | International archives of allergy and immunology |
| 35501253 | BMPR1B Polymorphisms (rs1434536 and rs1970801) are Associated With Breast Cancer Susceptibility in Northwest Chinese Han Females: A Case-Control Study. | Zheng Y et al. | 2022 | Clinical breast cancer |
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.