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.
rs7794745
Current Build 156
Released September 21, 2022
- Organism
- Homo sapiens
- Position
-
chr7:146792514 (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
- A>T
- Variation Type
- SNV Single Nucleotide Variation
- Frequency
-
T=0.479391 (126890/264690, TOPMED)T=0.487637 (68278/140018, GnomAD)T=0.36924 (10434/28258, 14KJPN) (+ 18 more)
- Clinical Significance
- Reported in ClinVar
- Gene : Consequence
- CNTNAP2 : Intron Variant
- Publications
- 27 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 | Ref HMOZ | Alt HMOZ | HTRZ | HWEP |
|---|---|---|---|---|---|---|---|---|
| Total | Global | 22244 | A=0.57211 | T=0.42789 | 0.350746 | 0.206528 | 0.442726 | 32 |
| European | Sub | 17576 | A=0.62637 | T=0.37363 | 0.397929 | 0.145198 | 0.456873 | 3 |
| African | Sub | 2946 | A=0.2230 | T=0.7770 | 0.048201 | 0.602172 | 0.349627 | 0 |
| African Others | Sub | 114 | A=0.167 | T=0.833 | 0.035088 | 0.701754 | 0.263158 | 0 |
| African American | Sub | 2832 | A=0.2253 | T=0.7747 | 0.048729 | 0.598164 | 0.353107 | 0 |
| Asian | Sub | 112 | A=0.571 | T=0.429 | 0.303571 | 0.160714 | 0.535714 | 0 |
| East Asian | Sub | 86 | A=0.55 | T=0.45 | 0.27907 | 0.186047 | 0.534884 | 0 |
| Other Asian | Sub | 26 | A=0.65 | T=0.35 | 0.384615 | 0.076923 | 0.538462 | 0 |
| Latin American 1 | Sub | 146 | A=0.527 | T=0.473 | 0.219178 | 0.164384 | 0.616438 | 3 |
| Latin American 2 | Sub | 610 | A=0.744 | T=0.256 | 0.560656 | 0.072131 | 0.367213 | 0 |
| South Asian | Sub | 98 | A=0.61 | T=0.39 | 0.408163 | 0.183673 | 0.408163 | 1 |
| Other | Sub | 756 | A=0.536 | T=0.464 | 0.28836 | 0.216931 | 0.494709 | 0 |
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 | A=0.520609 | T=0.479391 |
| gnomAD - Genomes | Global | Study-wide | 140018 | A=0.512363 | T=0.487637 |
| gnomAD - Genomes | European | Sub | 75830 | A=0.63397 | T=0.36603 |
| gnomAD - Genomes | African | Sub | 41958 | A=0.23924 | T=0.76076 |
| gnomAD - Genomes | American | Sub | 13632 | A=0.67268 | T=0.32732 |
| gnomAD - Genomes | Ashkenazi Jewish | Sub | 3322 | A=0.4455 | T=0.5545 |
| gnomAD - Genomes | East Asian | Sub | 3128 | A=0.5934 | T=0.4066 |
| gnomAD - Genomes | Other | Sub | 2148 | A=0.5223 | T=0.4777 |
| 14KJPN | JAPANESE | Study-wide | 28258 | A=0.63076 | T=0.36924 |
| Allele Frequency Aggregator | Total | Global | 22244 | A=0.57211 | T=0.42789 |
| Allele Frequency Aggregator | European | Sub | 17576 | A=0.62637 | T=0.37363 |
| Allele Frequency Aggregator | African | Sub | 2946 | A=0.2230 | T=0.7770 |
| Allele Frequency Aggregator | Other | Sub | 756 | A=0.536 | T=0.464 |
| Allele Frequency Aggregator | Latin American 2 | Sub | 610 | A=0.744 | T=0.256 |
| Allele Frequency Aggregator | Latin American 1 | Sub | 146 | A=0.527 | T=0.473 |
| Allele Frequency Aggregator | Asian | Sub | 112 | A=0.571 | T=0.429 |
| Allele Frequency Aggregator | South Asian | Sub | 98 | A=0.61 | T=0.39 |
| 8.3KJPN | JAPANESE | Study-wide | 16758 | A=0.63528 | T=0.36472 |
| 1000Genomes_30x | Global | Study-wide | 6404 | A=0.4866 | T=0.5134 |
| 1000Genomes_30x | African | Sub | 1786 | A=0.1433 | T=0.8567 |
| 1000Genomes_30x | Europe | Sub | 1266 | A=0.6209 | T=0.3791 |
| 1000Genomes_30x | South Asian | Sub | 1202 | A=0.6040 | T=0.3960 |
| 1000Genomes_30x | East Asian | Sub | 1170 | A=0.5530 | T=0.4470 |
| 1000Genomes_30x | American | Sub | 980 | A=0.715 | T=0.285 |
| 1000Genomes | Global | Study-wide | 5008 | A=0.4946 | T=0.5054 |
| 1000Genomes | African | Sub | 1322 | A=0.1528 | T=0.8472 |
| 1000Genomes | East Asian | Sub | 1008 | A=0.5565 | T=0.4435 |
| 1000Genomes | Europe | Sub | 1006 | A=0.6193 | T=0.3807 |
| 1000Genomes | South Asian | Sub | 978 | A=0.608 | T=0.392 |
| 1000Genomes | American | Sub | 694 | A=0.715 | T=0.285 |
| Genetic variation in the Estonian population | Estonian | Study-wide | 4480 | A=0.5498 | T=0.4502 |
| The Avon Longitudinal Study of Parents and Children | PARENT AND CHILD COHORT | Study-wide | 3854 | A=0.6775 | T=0.3225 |
| UK 10K study - Twins | TWIN COHORT | Study-wide | 3708 | A=0.6699 | T=0.3301 |
| KOREAN population from KRGDB | KOREAN | Study-wide | 2930 | A=0.6805 | T=0.3195 |
| HapMap | Global | Study-wide | 1888 | A=0.4513 | T=0.5487 |
| HapMap | American | Sub | 766 | A=0.611 | T=0.389 |
| HapMap | African | Sub | 692 | A=0.160 | T=0.840 |
| HapMap | Asian | Sub | 254 | A=0.626 | T=0.374 |
| HapMap | Europe | Sub | 176 | A=0.648 | T=0.352 |
| Korean Genome Project | KOREAN | Study-wide | 1832 | A=0.6599 | T=0.3401 |
| Genome of the Netherlands Release 5 | Genome of the Netherlands | Study-wide | 998 | A=0.649 | T=0.351 |
| CNV burdens in cranial meningiomas | Global | Study-wide | 784 | A=0.685 | T=0.315 |
| CNV burdens in cranial meningiomas | CRM | Sub | 784 | A=0.685 | T=0.315 |
| Northern Sweden | ACPOP | Study-wide | 600 | A=0.582 | T=0.418 |
| SGDP_PRJ | Global | Study-wide | 338 | A=0.287 | T=0.713 |
| Qatari | Global | Study-wide | 216 | A=0.431 | T=0.569 |
| A Vietnamese Genetic Variation Database | Global | Study-wide | 214 | A=0.556 | T=0.444 |
| The Danish reference pan genome | Danish | Study-wide | 40 | A=0.72 | T=0.28 |
| Siberian | Global | Study-wide | 28 | A=0.43 | T=0.57 |
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.146792514A>T |
| GRCh37.p13 chr 7 | NC_000007.13:g.146489606A>T |
| CNTNAP2 RefSeqGene | NG_007092.3:g.681514A>T |
| Molecule type | Change | Amino acid[Codon] | SO Term |
|---|---|---|---|
| CNTNAP2 transcript | NM_014141.6:c.208+18133A>T | N/A | Intron Variant |
| CNTNAP2 transcript variant X1 |
XM_017011950.3:c.208+1813… XM_017011950.3:c.208+18133A>T |
N/A | Intron 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 |
|---|---|---|
| RCV000005827.5 | Autism, susceptibility to, 15 | Risk-Factor |
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 | A= | T |
|---|---|---|
| GRCh38.p14 chr 7 | NC_000007.14:g.146792514= | NC_000007.14:g.146792514A>T |
| GRCh37.p13 chr 7 | NC_000007.13:g.146489606= | NC_000007.13:g.146489606A>T |
| CNTNAP2 RefSeqGene | NG_007092.3:g.681514= | NG_007092.3:g.681514A>T |
| CNTNAP2 transcript | NM_014141.5:c.208+18133= | NM_014141.5:c.208+18133A>T |
| CNTNAP2 transcript | NM_014141.6:c.208+18133= | NM_014141.6:c.208+18133A>T |
| CNTNAP2 transcript variant X1 | XM_017011950.3:c.208+18133= | XM_017011950.3:c.208+18133A>T |
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 | WI_SSAHASNP | ss11876271 | Jul 11, 2003 (116) |
| 2 | WI_SSAHASNP | ss14396001 | Dec 05, 2003 (120) |
| 3 | WUGSC_SSAHASNP | ss14579248 | Dec 05, 2003 (120) |
| 4 | SSAHASNP | ss22585101 | Apr 05, 2004 (121) |
| 5 | ABI | ss44810024 | Mar 14, 2006 (126) |
| 6 | AFFY | ss66396993 | Dec 01, 2006 (127) |
| 7 | PERLEGEN | ss69031262 | May 17, 2007 (127) |
| 8 | AFFY | ss76142729 | Dec 08, 2007 (130) |
| 9 | HGSV | ss78888954 | Dec 07, 2007 (129) |
| 10 | KRIBB_YJKIM | ss82493283 | Dec 15, 2007 (130) |
| 11 | HGSV | ss83178928 | Dec 15, 2007 (130) |
| 12 | BCMHGSC_JDW | ss93784688 | Mar 25, 2008 (129) |
| 13 | HUMANGENOME_JCVI | ss98348235 | Feb 06, 2009 (130) |
| 14 | BGI | ss104477104 | Dec 01, 2009 (131) |
| 15 | 1000GENOMES | ss112616870 | Jan 25, 2009 (130) |
| 16 | 1000GENOMES | ss114602070 | Jan 25, 2009 (130) |
| 17 | ILLUMINA-UK | ss116369067 | Feb 14, 2009 (130) |
| 18 | ENSEMBL | ss142542629 | Dec 01, 2009 (131) |
| 19 | GMI | ss155641260 | Dec 01, 2009 (131) |
| 20 | ILLUMINA | ss160915751 | Dec 01, 2009 (131) |
| 21 | COMPLETE_GENOMICS | ss162816670 | Jul 04, 2010 (132) |
| 22 | COMPLETE_GENOMICS | ss165624054 | Jul 04, 2010 (132) |
| 23 | COMPLETE_GENOMICS | ss167226214 | Jul 04, 2010 (132) |
| 24 | AFFY | ss172626464 | Jul 04, 2010 (132) |
| 25 | ILLUMINA | ss174552749 | Jul 04, 2010 (132) |
| 26 | BUSHMAN | ss198445136 | Jul 04, 2010 (132) |
| 27 | BCM-HGSC-SUB | ss208135703 | Jul 04, 2010 (132) |
| 28 | 1000GENOMES | ss223395505 | Jul 14, 2010 (132) |
| 29 | 1000GENOMES | ss234212580 | Jul 15, 2010 (132) |
| 30 | 1000GENOMES | ss241114870 | Jul 15, 2010 (132) |
| 31 | GMI | ss279575587 | May 04, 2012 (137) |
| 32 | GMI | ss285739498 | Apr 25, 2013 (138) |
| 33 | PJP | ss293996214 | May 09, 2011 (134) |
| 34 | ILLUMINA | ss481677742 | May 04, 2012 (137) |
| 35 | ILLUMINA | ss481708619 | May 04, 2012 (137) |
| 36 | ILLUMINA | ss482676096 | Sep 08, 2015 (146) |
| 37 | ILLUMINA | ss485633542 | May 04, 2012 (137) |
| 38 | ILLUMINA | ss537515183 | Sep 08, 2015 (146) |
| 39 | TISHKOFF | ss560377908 | Apr 25, 2013 (138) |
| 40 | SSMP | ss654790517 | Apr 25, 2013 (138) |
| 41 | ILLUMINA | ss778718105 | Aug 21, 2014 (142) |
| 42 | ILLUMINA | ss783262358 | Aug 21, 2014 (142) |
| 43 | ILLUMINA | ss784215764 | Aug 21, 2014 (142) |
| 44 | ILLUMINA | ss832523296 | Apr 01, 2015 (144) |
| 45 | ILLUMINA | ss834177450 | Aug 21, 2014 (142) |
| 46 | EVA-GONL | ss984924020 | Aug 21, 2014 (142) |
| 47 | JMKIDD_LAB | ss1075075022 | Aug 21, 2014 (142) |
| 48 | 1000GENOMES | ss1327613323 | Aug 21, 2014 (142) |
| 49 | DDI | ss1431316775 | Apr 01, 2015 (144) |
| 50 | EVA_GENOME_DK | ss1582450003 | Apr 01, 2015 (144) |
| 51 | EVA_DECODE | ss1594514431 | Apr 01, 2015 (144) |
| 52 | EVA_UK10K_ALSPAC | ss1619470097 | Apr 01, 2015 (144) |
| 53 | EVA_UK10K_TWINSUK | ss1662464130 | Apr 01, 2015 (144) |
| 54 | EVA_SVP | ss1712996072 | Apr 01, 2015 (144) |
| 55 | ILLUMINA | ss1752669918 | Sep 08, 2015 (146) |
| 56 | HAMMER_LAB | ss1805277013 | Sep 08, 2015 (146) |
| 57 | WEILL_CORNELL_DGM | ss1928182834 | Feb 12, 2016 (147) |
| 58 | GENOMED | ss1970843454 | Jul 19, 2016 (147) |
| 59 | JJLAB | ss2024780742 | Sep 14, 2016 (149) |
| 60 | USC_VALOUEV | ss2153004485 | Dec 20, 2016 (150) |
| 61 | HUMAN_LONGEVITY | ss2298835899 | Dec 20, 2016 (150) |
| 62 | SYSTEMSBIOZJU | ss2626875697 | Nov 08, 2017 (151) |
| 63 | ILLUMINA | ss2634674655 | Nov 08, 2017 (151) |
| 64 | GRF | ss2708729354 | Nov 08, 2017 (151) |
| 65 | GNOMAD | ss2860491498 | Nov 08, 2017 (151) |
| 66 | SWEGEN | ss3002241296 | Nov 08, 2017 (151) |
| 67 | BIOINF_KMB_FNS_UNIBA | ss3026179616 | Nov 08, 2017 (151) |
| 68 | CSHL | ss3347900394 | Nov 08, 2017 (151) |
| 69 | ILLUMINA | ss3629940256 | Oct 12, 2018 (152) |
| 70 | ILLUMINA | ss3632578208 | Oct 12, 2018 (152) |
| 71 | ILLUMINA | ss3633481801 | Oct 12, 2018 (152) |
| 72 | ILLUMINA | ss3634207599 | Oct 12, 2018 (152) |
| 73 | ILLUMINA | ss3635146993 | Oct 12, 2018 (152) |
| 74 | ILLUMINA | ss3635886919 | Oct 12, 2018 (152) |
| 75 | ILLUMINA | ss3636882023 | Oct 12, 2018 (152) |
| 76 | ILLUMINA | ss3637639977 | Oct 12, 2018 (152) |
| 77 | ILLUMINA | ss3638730554 | Oct 12, 2018 (152) |
| 78 | ILLUMINA | ss3640854284 | Oct 12, 2018 (152) |
| 79 | URBANLAB | ss3648781196 | Oct 12, 2018 (152) |
| 80 | EGCUT_WGS | ss3669986217 | Jul 13, 2019 (153) |
| 81 | EVA_DECODE | ss3720929131 | Jul 13, 2019 (153) |
| 82 | ACPOP | ss3735174468 | Jul 13, 2019 (153) |
| 83 | ILLUMINA | ss3745446942 | Jul 13, 2019 (153) |
| 84 | EVA | ss3767305357 | Jul 13, 2019 (153) |
| 85 | ILLUMINA | ss3772939641 | Jul 13, 2019 (153) |
| 86 | PACBIO | ss3785992106 | Jul 13, 2019 (153) |
| 87 | PACBIO | ss3791265265 | Jul 13, 2019 (153) |
| 88 | PACBIO | ss3796145532 | Jul 13, 2019 (153) |
| 89 | KHV_HUMAN_GENOMES | ss3810470247 | Jul 13, 2019 (153) |
| 90 | EVA | ss3830880567 | Apr 26, 2020 (154) |
| 91 | EVA | ss3838939440 | Apr 26, 2020 (154) |
| 92 | EVA | ss3844396770 | Apr 26, 2020 (154) |
| 93 | SGDP_PRJ | ss3868651633 | Apr 26, 2020 (154) |
| 94 | KRGDB | ss3916039736 | Apr 26, 2020 (154) |
| 95 | KOGIC | ss3962810859 | Apr 26, 2020 (154) |
| 96 | EVA | ss3984596888 | Apr 26, 2021 (155) |
| 97 | EVA | ss4017365231 | Apr 26, 2021 (155) |
| 98 | TOPMED | ss4767928948 | Apr 26, 2021 (155) |
| 99 | TOMMO_GENOMICS | ss5186135864 | Apr 26, 2021 (155) |
| 100 | 1000G_HIGH_COVERAGE | ss5275170634 | Oct 14, 2022 (156) |
| 101 | EVA | ss5315287245 | Oct 14, 2022 (156) |
| 102 | EVA | ss5377559290 | Oct 14, 2022 (156) |
| 103 | HUGCELL_USP | ss5472003128 | Oct 14, 2022 (156) |
| 104 | 1000G_HIGH_COVERAGE | ss5564546986 | Oct 14, 2022 (156) |
| 105 | SANFORD_IMAGENETICS | ss5644229685 | Oct 14, 2022 (156) |
| 106 | TOMMO_GENOMICS | ss5727309848 | Oct 14, 2022 (156) |
| 107 | EVA | ss5799740115 | Oct 14, 2022 (156) |
| 108 | YY_MCH | ss5809202161 | Oct 14, 2022 (156) |
| 109 | EVA | ss5823688477 | Oct 14, 2022 (156) |
| 110 | EVA | ss5856144483 | Oct 14, 2022 (156) |
| 111 | EVA | ss5861367469 | Oct 14, 2022 (156) |
| 112 | EVA | ss5973433798 | Oct 14, 2022 (156) |
| 113 | 1000Genomes | NC_000007.13 - 146489606 | Oct 12, 2018 (152) |
| 114 | 1000Genomes_30x | NC_000007.14 - 146792514 | Oct 14, 2022 (156) |
| 115 | The Avon Longitudinal Study of Parents and Children | NC_000007.13 - 146489606 | Oct 12, 2018 (152) |
| 116 | Genetic variation in the Estonian population | NC_000007.13 - 146489606 | Oct 12, 2018 (152) |
| 117 | The Danish reference pan genome | NC_000007.13 - 146489606 | Apr 26, 2020 (154) |
| 118 | gnomAD - Genomes | NC_000007.14 - 146792514 | Apr 26, 2021 (155) |
| 119 | Genome of the Netherlands Release 5 | NC_000007.13 - 146489606 | Apr 26, 2020 (154) |
| 120 | HapMap | NC_000007.14 - 146792514 | Apr 26, 2020 (154) |
| 121 | KOREAN population from KRGDB | NC_000007.13 - 146489606 | Apr 26, 2020 (154) |
| 122 | Korean Genome Project | NC_000007.14 - 146792514 | Apr 26, 2020 (154) |
| 123 | Northern Sweden | NC_000007.13 - 146489606 | Jul 13, 2019 (153) |
| 124 | CNV burdens in cranial meningiomas | NC_000007.13 - 146489606 | Apr 26, 2021 (155) |
| 125 | Qatari | NC_000007.13 - 146489606 | Apr 26, 2020 (154) |
| 126 | SGDP_PRJ | NC_000007.13 - 146489606 | Apr 26, 2020 (154) |
| 127 | Siberian | NC_000007.13 - 146489606 | Apr 26, 2020 (154) |
| 128 | 8.3KJPN | NC_000007.13 - 146489606 | Apr 26, 2021 (155) |
| 129 | 14KJPN | NC_000007.14 - 146792514 | Oct 14, 2022 (156) |
| 130 | TopMed | NC_000007.14 - 146792514 | Apr 26, 2021 (155) |
| 131 | UK 10K study - Twins | NC_000007.13 - 146489606 | Oct 12, 2018 (152) |
| 132 | A Vietnamese Genetic Variation Database | NC_000007.13 - 146489606 | Jul 13, 2019 (153) |
| 133 | ALFA | NC_000007.14 - 146792514 | Apr 26, 2021 (155) |
| 134 | ClinVar | RCV000005827.5 | Oct 14, 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) |
|---|---|
| rs10314229 | Feb 27, 2004 (120) |
| rs10373747 | Feb 27, 2004 (120) |
| rs56567265 | May 26, 2008 (130) |
| rs59359388 | Feb 27, 2009 (130) |
| rs60754679 | May 26, 2008 (130) |
| Submission IDs | Observation SPDI | Canonical SPDI | Source RSIDs |
|---|---|---|---|
| ss78888954, ss83178928 | NC_000007.11:145927253:A:T | NC_000007.14:146792513:A:T | (self) |
| ss66396993, ss76142729, ss93784688, ss112616870, ss114602070, ss116369067, ss160915751, ss162816670, ss165624054, ss167226214, ss172626464, ss198445136, ss208135703, ss279575587, ss285739498, ss293996214, ss481677742, ss1594514431, ss1712996072 | NC_000007.12:146120538:A:T | NC_000007.14:146792513:A:T | (self) |
| 39674802, 22080976, 15724465, 8614941, 9851087, 23217130, 8459333, 146320, 10224764, 20668613, 5520839, 44105171, 22080976, 4915214, ss223395505, ss234212580, ss241114870, ss481708619, ss482676096, ss485633542, ss537515183, ss560377908, ss654790517, ss778718105, ss783262358, ss784215764, ss832523296, ss834177450, ss984924020, ss1075075022, ss1327613323, ss1431316775, ss1582450003, ss1619470097, ss1662464130, ss1752669918, ss1805277013, ss1928182834, ss1970843454, ss2024780742, ss2153004485, ss2626875697, ss2634674655, ss2708729354, ss2860491498, ss3002241296, ss3347900394, ss3629940256, ss3632578208, ss3633481801, ss3634207599, ss3635146993, ss3635886919, ss3636882023, ss3637639977, ss3638730554, ss3640854284, ss3669986217, ss3735174468, ss3745446942, ss3767305357, ss3772939641, ss3785992106, ss3791265265, ss3796145532, ss3830880567, ss3838939440, ss3868651633, ss3916039736, ss3984596888, ss4017365231, ss5186135864, ss5315287245, ss5377559290, ss5644229685, ss5799740115, ss5823688477, ss5973433798 | NC_000007.13:146489605:A:T | NC_000007.14:146792513:A:T | (self) |
| RCV000005827.5, 52072921, 280188116, 3517290, 19188860, 61146952, 605306507, 9483655044, ss2298835899, ss3026179616, ss3648781196, ss3720929131, ss3810470247, ss3844396770, ss3962810859, ss4767928948, ss5275170634, ss5472003128, ss5564546986, ss5727309848, ss5809202161, ss5856144483, ss5861367469 | NC_000007.14:146792513:A:T | NC_000007.14:146792513:A:T | (self) |
| ss11876271 | NT_007914.12:7032376:A:T | NC_000007.14:146792513:A:T | (self) |
| ss14396001, ss14579248, ss22585101 | NT_007914.13:7065621:A:T | NC_000007.14:146792513:A:T | (self) |
| ss44810024, ss69031262, ss82493283, ss98348235, ss104477104, ss142542629, ss155641260, ss174552749 | NT_007914.15:7085228:A:T | NC_000007.14:146792513:A: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 |
|---|---|---|---|---|
| 18179894 | A common genetic variant in the neurexin superfamily member CNTNAP2 increases familial risk of autism. | Arking DE et al. | 2008 | American journal of human genetics |
| 19456320 | A genome-wide association study of autism reveals a common novel risk locus at 5p14.1. | Ma D et al. | 2009 | Annals of human genetics |
| 20176116 | Normal variation in fronto-occipital circuitry and cerebellar structure with an autism-associated polymorphism of CNTNAP2. | Tan GC et al. | 2010 | NeuroImage |
| 20414140 | Association analysis of CNTNAP2 polymorphisms with autism in the Chinese Han population. | Li X et al. | 2010 | Psychiatric genetics |
| 20446882 | Do candidate genes discriminate patients with an autism spectrum disorder from those with attention deficit/hyperactivity disorder and is there an effect of lifetime substance use disorders? | Sizoo B et al. | 2010 | The world journal of biological psychiatry |
| 20838614 | Traits contributing to the autistic spectrum. | Steer CD et al. | 2010 | PloS one |
| 21165691 | Investigation of dyslexia and SLI risk variants in reading- and language-impaired subjects. | Newbury DF et al. | 2011 | Behavior genetics |
| 21193173 | A common genetic variant in the neurexin superfamily member CNTNAP2 is associated with increased risk for selective mutism and social anxiety-related traits. | Stein MB et al. | 2011 | Biological psychiatry |
| 21310003 | CNTNAP2 variants affect early language development in the general population. | Whitehouse AJ et al. | 2011 | Genes, brain, and behavior |
| 21987501 | Genetic variation in CNTNAP2 alters brain function during linguistic processing in healthy individuals. | Whalley HC et al. | 2011 | American journal of medical genetics. Part B, Neuropsychiatric genetics |
| 22017886 | Autism risk assessment in siblings of affected children using sex-specific genetic scores. | Carayol J et al. | 2011 | Molecular autism |
| 22105624 | The genetics of attention deficit/hyperactivity disorder in adults, a review. | Franke B et al. | 2012 | Molecular psychiatry |
| 22365836 | What does CNTNAP2 reveal about autism spectrum disorder? | Peñagarikano O et al. | 2012 | Trends in molecular medicine |
| 22843504 | Individual common variants exert weak effects on the risk for autism spectrum disorders. | Anney R et al. | 2012 | Human molecular genetics |
| 23277129 | Analysis of two language-related genes in autism: a case-control association study of FOXP2 and CNTNAP2. | Toma C et al. | 2013 | Psychiatric genetics |
| 23715297 | Haplotype structure enables prioritization of common markers and candidate genes in autism spectrum disorder. | Vardarajan BN et al. | 2013 | Translational psychiatry |
| 24147096 | Defining the contribution of CNTNAP2 to autism susceptibility. | Sampath S et al. | 2013 | PloS one |
| 26322220 | A comprehensive meta-analysis of common genetic variants in autism spectrum conditions. | Warrier V et al. | 2015 | Molecular autism |
| 26559825 | CNTNAP2 gene in high functioning autism: no association according to family and meta-analysis approaches. | Werling AM et al. | 2016 | Journal of neural transmission (Vienna, Austria |
| 28284582 | The association of CNTNAP2 rs7794745 gene polymorphism and autism in Iranian population. | Zare S et al. | 2017 | Journal of clinical neuroscience |
| 28498932 | From CNTNAP2 to Early Expressive Language in Infancy: The Mediation Role of Rapid Auditory Processing. | Riva V et al. | 2018 | Cerebral cortex (New York, N.Y. |
| 28738218 | Common variation in the autism risk gene CNTNAP2, brain structural connectivity and multisensory speech integration. | Ross LA et al. | 2017 | Brain and language |
| 30586385 | Comprehensive cross-disorder analyses of CNTNAP2 suggest it is unlikely to be a primary risk gene for psychiatric disorders. | Toma C et al. | 2018 | PLoS genetics |
| 30681286 | Association between CNTNAP2 polymorphisms and autism: A family-based study in the chinese han population and a meta-analysis combined with GWAS data of psychiatric genomics consortium. | Zhang T et al. | 2019 | Autism research |
| 33901431 | Common variants of the autism-associated CNTNAP2 gene contribute to the modulatory effect of social function mediated by temporal cortex. | Li D et al. | 2021 | Behavioural brain research |
| 33950402 | CNTNAP2 gene polymorphisms in autism spectrum disorder and language impairment among Bangladeshi children: a case-control study combined with a meta-analysis. | Uddin MS et al. | 2021 | Human cell |
| 34257739 | Association between Genetic Variants in DUSP15, CNTNAP2, and PCDHA Genes and Risk of Childhood Autism Spectrum Disorder. | Fang F et al. | 2021 | Behavioural neurology |
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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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.