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.
rs175174
Current Build 156
Released September 21, 2022
- Organism
- Homo sapiens
- Position
-
chr22:20140031 (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>C / A>G / A>T
- Variation Type
- SNV Single Nucleotide Variation
- Frequency
-
G=0.448578 (118734/264690, TOPMED)G=0.397342 (87555/220352, ALFA)G=0.436931 (61110/139862, GnomAD) (+ 18 more)
- Clinical Significance
- Not Reported in ClinVar
- Gene : Consequence
- ZDHHC8 : Intron Variant
- Publications
- 17 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 | 220474 | A=0.602633 | G=0.397367 |
| European | Sub | 187944 | A=0.620972 | G=0.379028 |
| African | Sub | 7226 | A=0.5256 | G=0.4744 |
| African Others | Sub | 244 | A=0.500 | G=0.500 |
| African American | Sub | 6982 | A=0.5265 | G=0.4735 |
| Asian | Sub | 3688 | A=0.3251 | G=0.6749 |
| East Asian | Sub | 2364 | A=0.3350 | G=0.6650 |
| Other Asian | Sub | 1324 | A=0.3074 | G=0.6926 |
| Latin American 1 | Sub | 748 | A=0.582 | G=0.418 |
| Latin American 2 | Sub | 6288 | A=0.4146 | G=0.5854 |
| South Asian | Sub | 190 | A=0.453 | G=0.547 |
| Other | Sub | 14390 | A=0.55817 | G=0.44183 |
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=0.551422 | G=0.448578 |
| Allele Frequency Aggregator | Total | Global | 220352 | A=0.602658 | G=0.397342 |
| Allele Frequency Aggregator | European | Sub | 187840 | A=0.621007 | G=0.378993 |
| Allele Frequency Aggregator | Other | Sub | 14386 | A=0.55811 | G=0.44189 |
| Allele Frequency Aggregator | African | Sub | 7212 | A=0.5257 | G=0.4743 |
| Allele Frequency Aggregator | Latin American 2 | Sub | 6288 | A=0.4146 | G=0.5854 |
| Allele Frequency Aggregator | Asian | Sub | 3688 | A=0.3251 | G=0.6749 |
| Allele Frequency Aggregator | Latin American 1 | Sub | 748 | A=0.582 | G=0.418 |
| Allele Frequency Aggregator | South Asian | Sub | 190 | A=0.453 | G=0.547 |
| gnomAD - Genomes | Global | Study-wide | 139862 | A=0.563069 | G=0.436931 |
| gnomAD - Genomes | European | Sub | 75758 | A=0.60928 | G=0.39072 |
| gnomAD - Genomes | African | Sub | 41866 | A=0.51698 | G=0.48302 |
| gnomAD - Genomes | American | Sub | 13636 | A=0.50015 | G=0.49985 |
| gnomAD - Genomes | Ashkenazi Jewish | Sub | 3322 | A=0.5900 | G=0.4100 |
| gnomAD - Genomes | East Asian | Sub | 3130 | A=0.3147 | G=0.6853 |
| gnomAD - Genomes | Other | Sub | 2150 | A=0.5512 | G=0.4488 |
| The PAGE Study | Global | Study-wide | 78606 | A=0.48537 | G=0.51463 |
| The PAGE Study | AfricanAmerican | Sub | 32470 | A=0.52510 | G=0.47490 |
| The PAGE Study | Mexican | Sub | 10806 | A=0.42097 | G=0.57903 |
| The PAGE Study | Asian | Sub | 8306 | A=0.3808 | G=0.6192 |
| The PAGE Study | PuertoRican | Sub | 7906 | A=0.5368 | G=0.4632 |
| The PAGE Study | NativeHawaiian | Sub | 4520 | A=0.3489 | G=0.6511 |
| The PAGE Study | Cuban | Sub | 4230 | A=0.5927 | G=0.4073 |
| The PAGE Study | Dominican | Sub | 3828 | A=0.5489 | G=0.4511 |
| The PAGE Study | CentralAmerican | Sub | 2448 | A=0.4330 | G=0.5670 |
| The PAGE Study | SouthAmerican | Sub | 1978 | A=0.4444 | G=0.5556 |
| The PAGE Study | NativeAmerican | Sub | 1260 | A=0.4937 | G=0.5063 |
| The PAGE Study | SouthAsian | Sub | 854 | A=0.470 | G=0.530 |
| 14KJPN | JAPANESE | Study-wide | 28254 | A=0.39410 | G=0.60590 |
| 8.3KJPN | JAPANESE | Study-wide | 16756 | A=0.39180 | G=0.60820 |
| 1000Genomes_30x | Global | Study-wide | 6404 | A=0.4822 | G=0.5178 |
| 1000Genomes_30x | African | Sub | 1786 | A=0.5151 | G=0.4849 |
| 1000Genomes_30x | Europe | Sub | 1266 | A=0.6185 | G=0.3815 |
| 1000Genomes_30x | South Asian | Sub | 1202 | A=0.4692 | G=0.5308 |
| 1000Genomes_30x | East Asian | Sub | 1170 | A=0.3085 | G=0.6915 |
| 1000Genomes_30x | American | Sub | 980 | A=0.469 | G=0.531 |
| 1000Genomes | Global | Study-wide | 5008 | A=0.4794 | G=0.5206 |
| 1000Genomes | African | Sub | 1322 | A=0.5136 | G=0.4864 |
| 1000Genomes | East Asian | Sub | 1008 | A=0.3105 | G=0.6895 |
| 1000Genomes | Europe | Sub | 1006 | A=0.6163 | G=0.3837 |
| 1000Genomes | South Asian | Sub | 978 | A=0.481 | G=0.519 |
| 1000Genomes | American | Sub | 694 | A=0.460 | G=0.540 |
| Genetic variation in the Estonian population | Estonian | Study-wide | 4480 | A=0.5915 | G=0.4085 |
| The Avon Longitudinal Study of Parents and Children | PARENT AND CHILD COHORT | Study-wide | 3854 | A=0.6126 | G=0.3874 |
| UK 10K study - Twins | TWIN COHORT | Study-wide | 3708 | A=0.6149 | G=0.3851 |
| KOREAN population from KRGDB | KOREAN | Study-wide | 2930 | A=0.3669 | C=0.0000, G=0.6331, T=0.0000 |
| HapMap | Global | Study-wide | 1886 | A=0.5127 | G=0.4873 |
| HapMap | American | Sub | 768 | A=0.482 | G=0.518 |
| HapMap | African | Sub | 692 | A=0.555 | G=0.445 |
| HapMap | Asian | Sub | 250 | A=0.380 | G=0.620 |
| HapMap | Europe | Sub | 176 | A=0.670 | G=0.330 |
| Korean Genome Project | KOREAN | Study-wide | 1832 | A=0.3461 | G=0.6539 |
| Genome of the Netherlands Release 5 | Genome of the Netherlands | Study-wide | 998 | A=0.617 | G=0.383 |
| Northern Sweden | ACPOP | Study-wide | 600 | A=0.593 | G=0.407 |
| Medical Genome Project healthy controls from Spanish population | Spanish controls | Study-wide | 534 | A=0.712 | G=0.288 |
| SGDP_PRJ | Global | Study-wide | 416 | A=0.310 | G=0.690 |
| Qatari | Global | Study-wide | 216 | A=0.685 | G=0.315 |
| The Danish reference pan genome | Danish | Study-wide | 40 | A=0.72 | G=0.28 |
| Siberian | Global | Study-wide | 36 | A=0.44 | G=0.56 |
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 22 | NC_000022.11:g.20140031A>C |
| GRCh38.p14 chr 22 | NC_000022.11:g.20140031A>G |
| GRCh38.p14 chr 22 | NC_000022.11:g.20140031A>T |
| GRCh37.p13 chr 22 | NC_000022.10:g.20127554A>C |
| GRCh37.p13 chr 22 | NC_000022.10:g.20127554A>G |
| GRCh37.p13 chr 22 | NC_000022.10:g.20127554A>T |
| ZDHHC8 RefSeqGene | NG_021420.1:g.13191A>C |
| ZDHHC8 RefSeqGene | NG_021420.1:g.13191A>G |
| ZDHHC8 RefSeqGene | NG_021420.1:g.13191A>T |
| Molecule type | Change | Amino acid[Codon] | SO Term |
|---|---|---|---|
| ZDHHC8 transcript variant 1 | NM_001185024.2:c.558-84A>C | N/A | Intron Variant |
| ZDHHC8 transcript variant 2 | NM_013373.4:c.558-84A>C | N/A | Intron Variant |
| ZDHHC8 transcript variant X1 | XM_006724239.3:c.558-84A>C | 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.
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= | C | G | T |
|---|---|---|---|---|
| GRCh38.p14 chr 22 | NC_000022.11:g.20140031= | NC_000022.11:g.20140031A>C | NC_000022.11:g.20140031A>G | NC_000022.11:g.20140031A>T |
| GRCh37.p13 chr 22 | NC_000022.10:g.20127554= | NC_000022.10:g.20127554A>C | NC_000022.10:g.20127554A>G | NC_000022.10:g.20127554A>T |
| ZDHHC8 RefSeqGene | NG_021420.1:g.13191= | NG_021420.1:g.13191A>C | NG_021420.1:g.13191A>G | NG_021420.1:g.13191A>T |
| ZDHHC8 transcript variant 1 | NM_001185024.1:c.558-84= | NM_001185024.1:c.558-84A>C | NM_001185024.1:c.558-84A>G | NM_001185024.1:c.558-84A>T |
| ZDHHC8 transcript variant 1 | NM_001185024.2:c.558-84= | NM_001185024.2:c.558-84A>C | NM_001185024.2:c.558-84A>G | NM_001185024.2:c.558-84A>T |
| ZDHHC8 transcript variant 2 | NM_013373.3:c.558-84= | NM_013373.3:c.558-84A>C | NM_013373.3:c.558-84A>G | NM_013373.3:c.558-84A>T |
| ZDHHC8 transcript variant 2 | NM_013373.4:c.558-84= | NM_013373.4:c.558-84A>C | NM_013373.4:c.558-84A>G | NM_013373.4:c.558-84A>T |
| ZDHHC8 transcript variant X1 | XM_006724239.3:c.558-84= | XM_006724239.3:c.558-84A>C | XM_006724239.3:c.558-84A>G | XM_006724239.3:c.558-84A>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 | KWOK | ss233192 | Jul 12, 2000 (79) |
| 2 | KWOK | ss1750495 | Oct 18, 2000 (87) |
| 3 | SC_JCM | ss2451775 | Nov 09, 2000 (92) |
| 4 | YUSUKE | ss3227542 | Sep 28, 2001 (100) |
| 5 | SC_SNP | ss13344477 | Dec 05, 2003 (119) |
| 6 | ABI | ss44331068 | Mar 13, 2006 (126) |
| 7 | ILLUMINA | ss65764580 | Oct 16, 2006 (127) |
| 8 | KRIBB_YJKIM | ss65825281 | Dec 01, 2006 (127) |
| 9 | ILLUMINA | ss74866201 | Dec 06, 2007 (129) |
| 10 | KRIBB_YJKIM | ss80750557 | Dec 16, 2007 (130) |
| 11 | HGSV | ss80815856 | Dec 16, 2007 (130) |
| 12 | HGSV | ss85891495 | Dec 16, 2007 (130) |
| 13 | HGSV | ss85897570 | Dec 16, 2007 (130) |
| 14 | BCMHGSC_JDW | ss91877944 | Mar 24, 2008 (129) |
| 15 | BGI | ss103842082 | Dec 01, 2009 (131) |
| 16 | 1000GENOMES | ss112552376 | Jan 25, 2009 (130) |
| 17 | 1000GENOMES | ss114037624 | Jan 25, 2009 (130) |
| 18 | ILLUMINA-UK | ss117362555 | Feb 14, 2009 (130) |
| 19 | KRIBB_YJKIM | ss119342863 | Dec 01, 2009 (131) |
| 20 | ENSEMBL | ss138335421 | Dec 01, 2009 (131) |
| 21 | GMI | ss157035753 | Dec 01, 2009 (131) |
| 22 | ILLUMINA | ss160446420 | Dec 01, 2009 (131) |
| 23 | COMPLETE_GENOMICS | ss167686744 | Jul 04, 2010 (132) |
| 24 | COMPLETE_GENOMICS | ss168894675 | Jul 04, 2010 (132) |
| 25 | ILLUMINA | ss172843109 | Jul 04, 2010 (132) |
| 26 | BUSHMAN | ss204050883 | Jul 04, 2010 (132) |
| 27 | 1000GENOMES | ss228618753 | Jul 14, 2010 (132) |
| 28 | 1000GENOMES | ss238022884 | Jul 15, 2010 (132) |
| 29 | 1000GENOMES | ss244152104 | Jul 15, 2010 (132) |
| 30 | BL | ss255843266 | May 09, 2011 (134) |
| 31 | GMI | ss283587636 | May 04, 2012 (137) |
| 32 | PJP | ss292736543 | May 09, 2011 (134) |
| 33 | ILLUMINA | ss480249059 | May 04, 2012 (137) |
| 34 | ILLUMINA | ss480259911 | May 04, 2012 (137) |
| 35 | ILLUMINA | ss481001732 | Sep 08, 2015 (146) |
| 36 | ILLUMINA | ss484922457 | May 04, 2012 (137) |
| 37 | EXOME_CHIP | ss491568556 | May 04, 2012 (137) |
| 38 | ILLUMINA | ss536972349 | Sep 08, 2015 (146) |
| 39 | TISHKOFF | ss566561605 | Apr 25, 2013 (138) |
| 40 | SSMP | ss662484714 | Apr 25, 2013 (138) |
| 41 | ILLUMINA | ss778462156 | Sep 08, 2015 (146) |
| 42 | ILLUMINA | ss780799691 | Sep 08, 2015 (146) |
| 43 | ILLUMINA | ss782907567 | Sep 08, 2015 (146) |
| 44 | ILLUMINA | ss783481048 | Sep 08, 2015 (146) |
| 45 | ILLUMINA | ss783870828 | Sep 08, 2015 (146) |
| 46 | ILLUMINA | ss832162460 | Sep 08, 2015 (146) |
| 47 | ILLUMINA | ss833917865 | Sep 08, 2015 (146) |
| 48 | EVA-GONL | ss995224290 | Aug 21, 2014 (142) |
| 49 | JMKIDD_LAB | ss1082571359 | Aug 21, 2014 (142) |
| 50 | 1000GENOMES | ss1366688726 | Aug 21, 2014 (142) |
| 51 | DDI | ss1429220207 | Apr 01, 2015 (144) |
| 52 | EVA_GENOME_DK | ss1579704743 | Apr 01, 2015 (144) |
| 53 | EVA_UK10K_ALSPAC | ss1639756769 | Apr 01, 2015 (144) |
| 54 | EVA_UK10K_TWINSUK | ss1682750802 | Apr 01, 2015 (144) |
| 55 | EVA_DECODE | ss1699293444 | Apr 01, 2015 (144) |
| 56 | EVA_MGP | ss1711560671 | Apr 01, 2015 (144) |
| 57 | EVA_SVP | ss1713731398 | Apr 01, 2015 (144) |
| 58 | ILLUMINA | ss1752414146 | Sep 08, 2015 (146) |
| 59 | ILLUMINA | ss1752414147 | Sep 08, 2015 (146) |
| 60 | HAMMER_LAB | ss1809734498 | Sep 08, 2015 (146) |
| 61 | ILLUMINA | ss1917953515 | Feb 12, 2016 (147) |
| 62 | WEILL_CORNELL_DGM | ss1938785713 | Feb 12, 2016 (147) |
| 63 | ILLUMINA | ss1946578059 | Feb 12, 2016 (147) |
| 64 | ILLUMINA | ss1946578062 | Feb 12, 2016 (147) |
| 65 | ILLUMINA | ss1959965997 | Feb 12, 2016 (147) |
| 66 | ILLUMINA | ss1959965998 | Feb 12, 2016 (147) |
| 67 | GENOMED | ss1969247153 | Jul 19, 2016 (147) |
| 68 | JJLAB | ss2030166027 | Sep 14, 2016 (149) |
| 69 | USC_VALOUEV | ss2158776112 | Dec 20, 2016 (150) |
| 70 | HUMAN_LONGEVITY | ss2246468932 | Dec 20, 2016 (150) |
| 71 | SYSTEMSBIOZJU | ss2629581229 | Nov 08, 2017 (151) |
| 72 | ILLUMINA | ss2633863019 | Nov 08, 2017 (151) |
| 73 | ILLUMINA | ss2635110839 | Nov 08, 2017 (151) |
| 74 | GRF | ss2704518973 | Nov 08, 2017 (151) |
| 75 | ILLUMINA | ss2710952938 | Nov 08, 2017 (151) |
| 76 | GNOMAD | ss2973002414 | Nov 08, 2017 (151) |
| 77 | AFFY | ss2985850806 | Nov 08, 2017 (151) |
| 78 | SWEGEN | ss3019088722 | Nov 08, 2017 (151) |
| 79 | ILLUMINA | ss3022172178 | Nov 08, 2017 (151) |
| 80 | ILLUMINA | ss3022172179 | Nov 08, 2017 (151) |
| 81 | BIOINF_KMB_FNS_UNIBA | ss3028920715 | Nov 08, 2017 (151) |
| 82 | CSHL | ss3352777040 | Nov 08, 2017 (151) |
| 83 | ILLUMINA | ss3625799546 | Oct 12, 2018 (152) |
| 84 | ILLUMINA | ss3628506456 | Oct 12, 2018 (152) |
| 85 | ILLUMINA | ss3628506457 | Oct 12, 2018 (152) |
| 86 | ILLUMINA | ss3631815367 | Oct 12, 2018 (152) |
| 87 | ILLUMINA | ss3633268942 | Oct 12, 2018 (152) |
| 88 | ILLUMINA | ss3633984349 | Oct 12, 2018 (152) |
| 89 | ILLUMINA | ss3634861123 | Oct 12, 2018 (152) |
| 90 | ILLUMINA | ss3634861124 | Oct 12, 2018 (152) |
| 91 | ILLUMINA | ss3635668982 | Oct 12, 2018 (152) |
| 92 | ILLUMINA | ss3636556714 | Oct 12, 2018 (152) |
| 93 | ILLUMINA | ss3637421176 | Oct 12, 2018 (152) |
| 94 | ILLUMINA | ss3638374592 | Oct 12, 2018 (152) |
| 95 | ILLUMINA | ss3640568424 | Oct 12, 2018 (152) |
| 96 | ILLUMINA | ss3640568425 | Oct 12, 2018 (152) |
| 97 | ILLUMINA | ss3641136409 | Oct 12, 2018 (152) |
| 98 | ILLUMINA | ss3641432794 | Oct 12, 2018 (152) |
| 99 | ILLUMINA | ss3643334988 | Oct 12, 2018 (152) |
| 100 | ILLUMINA | ss3644796453 | Oct 12, 2018 (152) |
| 101 | ILLUMINA | ss3644796454 | Oct 12, 2018 (152) |
| 102 | OMUKHERJEE_ADBS | ss3646561342 | Oct 12, 2018 (152) |
| 103 | ILLUMINA | ss3652633738 | Oct 12, 2018 (152) |
| 104 | ILLUMINA | ss3652633739 | Oct 12, 2018 (152) |
| 105 | EGCUT_WGS | ss3685621242 | Jul 13, 2019 (153) |
| 106 | EVA_DECODE | ss3707957791 | Jul 13, 2019 (153) |
| 107 | ILLUMINA | ss3725957731 | Jul 13, 2019 (153) |
| 108 | ACPOP | ss3743824512 | Jul 13, 2019 (153) |
| 109 | ILLUMINA | ss3744205073 | Jul 13, 2019 (153) |
| 110 | ILLUMINA | ss3744500576 | Jul 13, 2019 (153) |
| 111 | ILLUMINA | ss3745160952 | Jul 13, 2019 (153) |
| 112 | ILLUMINA | ss3745160953 | Jul 13, 2019 (153) |
| 113 | EVA | ss3759232875 | Jul 13, 2019 (153) |
| 114 | PAGE_CC | ss3772082465 | Jul 13, 2019 (153) |
| 115 | ILLUMINA | ss3772656931 | Jul 13, 2019 (153) |
| 116 | ILLUMINA | ss3772656932 | Jul 13, 2019 (153) |
| 117 | PACBIO | ss3788793836 | Jul 13, 2019 (153) |
| 118 | PACBIO | ss3793664875 | Jul 13, 2019 (153) |
| 119 | PACBIO | ss3798551203 | Jul 13, 2019 (153) |
| 120 | KHV_HUMAN_GENOMES | ss3822400369 | Jul 13, 2019 (153) |
| 121 | EVA | ss3825965713 | Apr 27, 2020 (154) |
| 122 | EVA | ss3835928503 | Apr 27, 2020 (154) |
| 123 | SGDP_PRJ | ss3890259491 | Apr 27, 2020 (154) |
| 124 | KRGDB | ss3940643890 | Apr 27, 2020 (154) |
| 125 | KOGIC | ss3983392973 | Apr 27, 2020 (154) |
| 126 | FSA-LAB | ss3984229990 | Apr 27, 2021 (155) |
| 127 | EVA | ss3984758390 | Apr 27, 2021 (155) |
| 128 | EVA | ss3984758391 | Apr 27, 2021 (155) |
| 129 | EVA | ss3986853713 | Apr 27, 2021 (155) |
| 130 | EVA | ss4017873787 | Apr 27, 2021 (155) |
| 131 | TOPMED | ss5105157996 | Apr 27, 2021 (155) |
| 132 | TOMMO_GENOMICS | ss5232046963 | Apr 27, 2021 (155) |
| 133 | EVA | ss5237254870 | Apr 27, 2021 (155) |
| 134 | 1000G_HIGH_COVERAGE | ss5310662861 | Oct 16, 2022 (156) |
| 135 | EVA | ss5316047152 | Oct 16, 2022 (156) |
| 136 | EVA | ss5440534140 | Oct 16, 2022 (156) |
| 137 | HUGCELL_USP | ss5502573582 | Oct 16, 2022 (156) |
| 138 | EVA | ss5512348746 | Oct 16, 2022 (156) |
| 139 | 1000G_HIGH_COVERAGE | ss5618024255 | Oct 16, 2022 (156) |
| 140 | EVA | ss5623983088 | Oct 16, 2022 (156) |
| 141 | EVA | ss5624119916 | Oct 16, 2022 (156) |
| 142 | SANFORD_IMAGENETICS | ss5664239331 | Oct 16, 2022 (156) |
| 143 | TOMMO_GENOMICS | ss5792999765 | Oct 16, 2022 (156) |
| 144 | EVA | ss5800037588 | Oct 16, 2022 (156) |
| 145 | EVA | ss5800234285 | Oct 16, 2022 (156) |
| 146 | YY_MCH | ss5818597089 | Oct 16, 2022 (156) |
| 147 | EVA | ss5821902181 | Oct 16, 2022 (156) |
| 148 | EVA | ss5847939491 | Oct 16, 2022 (156) |
| 149 | EVA | ss5848562722 | Oct 16, 2022 (156) |
| 150 | EVA | ss5853346950 | Oct 16, 2022 (156) |
| 151 | EVA | ss5881354197 | Oct 16, 2022 (156) |
| 152 | EVA | ss5936579438 | Oct 16, 2022 (156) |
| 153 | EVA | ss5959110877 | Oct 16, 2022 (156) |
| 154 | EVA | ss5981320836 | Oct 16, 2022 (156) |
| 155 | 1000Genomes | NC_000022.10 - 20127554 | Oct 12, 2018 (152) |
| 156 | 1000Genomes_30x | NC_000022.11 - 20140031 | Oct 16, 2022 (156) |
| 157 | The Avon Longitudinal Study of Parents and Children | NC_000022.10 - 20127554 | Oct 12, 2018 (152) |
| 158 | Genetic variation in the Estonian population | NC_000022.10 - 20127554 | Oct 12, 2018 (152) |
| 159 | The Danish reference pan genome | NC_000022.10 - 20127554 | Apr 27, 2020 (154) |
| 160 | gnomAD - Genomes | NC_000022.11 - 20140031 | Apr 27, 2021 (155) |
| 161 | Genome of the Netherlands Release 5 | NC_000022.10 - 20127554 | Apr 27, 2020 (154) |
| 162 | HapMap | NC_000022.11 - 20140031 | Apr 27, 2020 (154) |
| 163 | KOREAN population from KRGDB | NC_000022.10 - 20127554 | Apr 27, 2020 (154) |
| 164 | Korean Genome Project | NC_000022.11 - 20140031 | Apr 27, 2020 (154) |
| 165 | Medical Genome Project healthy controls from Spanish population | NC_000022.10 - 20127554 | Apr 27, 2020 (154) |
| 166 | Northern Sweden | NC_000022.10 - 20127554 | Jul 13, 2019 (153) |
| 167 | The PAGE Study | NC_000022.11 - 20140031 | Jul 13, 2019 (153) |
| 168 |
CNV burdens in cranial meningiomas
Submission ignored due to conflicting rows: |
- | Apr 27, 2021 (155) |
| 169 |
CNV burdens in cranial meningiomas
Submission ignored due to conflicting rows: |
- | Apr 27, 2021 (155) |
| 170 | Qatari | NC_000022.10 - 20127554 | Apr 27, 2020 (154) |
| 171 | SGDP_PRJ | NC_000022.10 - 20127554 | Apr 27, 2020 (154) |
| 172 | Siberian | NC_000022.10 - 20127554 | Apr 27, 2020 (154) |
| 173 | 8.3KJPN | NC_000022.10 - 20127554 | Apr 27, 2021 (155) |
| 174 | 14KJPN | NC_000022.11 - 20140031 | Oct 16, 2022 (156) |
| 175 | TopMed | NC_000022.11 - 20140031 | Apr 27, 2021 (155) |
| 176 | UK 10K study - Twins | NC_000022.10 - 20127554 | Oct 12, 2018 (152) |
| 177 | ALFA | NC_000022.11 - 20140031 | Apr 27, 2021 (155) |
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) |
|---|---|
| rs1633448 | Jan 18, 2001 (92) |
| rs61658230 | May 27, 2008 (130) |
| Submission IDs | Observation SPDI | Canonical SPDI | Source RSIDs |
|---|---|---|---|
| 47821284, ss3940643890 | NC_000022.10:20127553:A:C | NC_000022.11:20140030:A:C | (self) |
| ss80815856, ss85891495, ss85897570 | NC_000022.8:18502107:A:G | NC_000022.11:20140030:A:G | (self) |
| ss91877944, ss112552376, ss114037624, ss117362555, ss167686744, ss168894675, ss204050883, ss255843266, ss283587636, ss292736543, ss480249059, ss1699293444, ss1713731398, ss2635110839, ss3643334988 | NC_000022.9:18507553:A:G | NC_000022.11:20140030:A:G | (self) |
| 80223320, 44385038, 31359490, 5869682, 19775281, 47821284, 676431, 17109377, 20827635, 42276471, 11292466, 90016270, 44385038, ss228618753, ss238022884, ss244152104, ss480259911, ss481001732, ss484922457, ss491568556, ss536972349, ss566561605, ss662484714, ss778462156, ss780799691, ss782907567, ss783481048, ss783870828, ss832162460, ss833917865, ss995224290, ss1082571359, ss1366688726, ss1429220207, ss1579704743, ss1639756769, ss1682750802, ss1711560671, ss1752414146, ss1752414147, ss1809734498, ss1917953515, ss1938785713, ss1946578059, ss1946578062, ss1959965997, ss1959965998, ss1969247153, ss2030166027, ss2158776112, ss2629581229, ss2633863019, ss2704518973, ss2710952938, ss2973002414, ss2985850806, ss3019088722, ss3022172178, ss3022172179, ss3352777040, ss3625799546, ss3628506456, ss3628506457, ss3631815367, ss3633268942, ss3633984349, ss3634861123, ss3634861124, ss3635668982, ss3636556714, ss3637421176, ss3638374592, ss3640568424, ss3640568425, ss3641136409, ss3641432794, ss3644796453, ss3644796454, ss3646561342, ss3652633738, ss3652633739, ss3685621242, ss3743824512, ss3744205073, ss3744500576, ss3745160952, ss3745160953, ss3759232875, ss3772656931, ss3772656932, ss3788793836, ss3793664875, ss3798551203, ss3825965713, ss3835928503, ss3890259491, ss3940643890, ss3984229990, ss3984758390, ss3984758391, ss3986853713, ss4017873787, ss5232046963, ss5316047152, ss5440534140, ss5512348746, ss5623983088, ss5624119916, ss5664239331, ss5800037588, ss5800234285, ss5821902181, ss5847939491, ss5848562722, ss5936579438, ss5959110877, ss5981320836 | NC_000022.10:20127553:A:G | NC_000022.11:20140030:A:G | (self) |
| 105550190, 566583872, 2228210, 39770974, 1303934, 126836869, 380266943, 12575301891, ss2246468932, ss3028920715, ss3707957791, ss3725957731, ss3772082465, ss3822400369, ss3983392973, ss5105157996, ss5237254870, ss5310662861, ss5502573582, ss5618024255, ss5792999765, ss5818597089, ss5853346950, ss5881354197 | NC_000022.11:20140030:A:G | NC_000022.11:20140030:A:G | (self) |
| ss233192, ss1750495, ss2451775, ss3227542, ss13344477, ss44331068, ss65764580, ss65825281, ss74866201, ss80750557, ss103842082, ss119342863, ss138335421, ss157035753, ss160446420, ss172843109 | NT_011519.10:3279703:A:G | NC_000022.11:20140030:A:G | (self) |
| 47821284, ss3940643890 | NC_000022.10:20127553:A:T | NC_000022.11:20140030: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 |
|---|---|---|---|---|
| 15184899 | Evidence that the gene encoding ZDHHC8 contributes to the risk of schizophrenia. | Mukai J et al. | 2004 | Nature genetics |
| 15489219 | Case-control study and transmission disequilibrium test provide consistent evidence for association between schizophrenia and genetic variation in the 22q11 gene ZDHHC8. | Chen WY et al. | 2004 | Human molecular genetics |
| 15631889 | No association was found between a functional SNP in ZDHHC8 and schizophrenia in a Japanese case-control population. | Saito S et al. | 2005 | Neuroscience letters |
| 15992527 | No association between the putative functional ZDHHC8 single nucleotide polymorphism rs175174 and schizophrenia in large European samples. | Glaser B et al. | 2005 | Biological psychiatry |
| 16150541 | The ZDHHC8 gene did not associate with bipolar disorder or schizophrenia. | Otani K et al. | 2005 | Neuroscience letters |
| 16225675 | ZDHHC8 as a candidate gene for schizophrenia: analysis of a putative functional intronic marker in case-control and family-based association studies. | Faul T et al. | 2005 | BMC psychiatry |
| 16860541 | Analysis of ProDH, COMT and ZDHHC8 risk variants does not support individual or interactive effects on schizophrenia susceptibility. | Glaser B et al. | 2006 | Schizophrenia research |
| 17622328 | Analysis of TBX1 variation in patients with psychotic and affective disorders. | Funke BH et al. | 2007 | Molecular medicine (Cambridge, Mass.) |
| 17728672 | ZDHHC8 single nucleotide polymorphism rs175174 is not associated with psychiatric features of the 22q11 deletion syndrome or schizophrenia. | Demily C et al. | 2007 | Psychiatric genetics |
| 18075473 | HTF9C gene of 22q11.21 region associates with schizophrenia having deficit-sustained attention. | Liu YL et al. | 2007 | Psychiatric genetics |
| 19197363 | A genome-wide investigation of SNPs and CNVs in schizophrenia. | Need AC et al. | 2009 | PLoS genetics |
| 20661937 | Testing for genetic association between the ZDHHC8 gene locus and susceptibility to schizophrenia: An integrated analysis of multiple datasets. | Xu M et al. | 2010 | American journal of medical genetics. Part B, Neuropsychiatric genetics |
| 22763378 | Increased corpus callosum volume in children with chromosome 22q11.2 deletion syndrome is associated with neurocognitive deficits and genetic polymorphisms. | Shashi V et al. | 2012 | European journal of human genetics |
| 23403413 | ZDHHC8 gene may play a role in cortical volumes of patients with schizophrenia. | Ota VK et al. | 2013 | Schizophrenia research |
| 27909454 | Linkage and Association Analyses of Schizophrenia with Genetic Variations on Chromosome 22q11 in Koreans. | Yoon SC et al. | 2016 | Psychiatry investigation |
| 28332369 | Gender-Specific Associations between CHGB Genetic Variants and Schizophrenia in a Korean Population. | Shin JG et al. | 2017 | Yonsei medical journal |
| 28562378 | Lack of association between COMT Val158Met and ZDHHC8 rs175174 polymorphisms and susceptibility to schizophrenia in a Brazilian population. | Moraes LS et al. | 2017 | Psychiatric genetics |
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.